| Gene . | OMIM prevalent mutation sites . | Spliceosome complex . | Disease . | Inheritance . | References . |
|---|---|---|---|---|---|
| SNRPB | Various mutations in an alternatively spliced regulatory exon | Sm | Cerebro-costo-mandibular syndrome | AD | (Lynch et al. 2014; Bacrot et al. 2015; Tooley et al. 2016) |
| SNRPE | c.1A>G (p.M1?); c.133G>A (p.G45S) | Sm | Hypotrichosis 11 | AD | (Pasternack et al. 2013) |
| SF3B1 | Mutations clustered in exons 12 to 15; p.K700E; Other hotspots: p.E622; p.R625; p.H662; p.K666; p.I704; G742 | U2 snRNP | MDS; CMML; AML; solid tumors | (Papaemmanuil et al. 2011; Quesada et al. 2011; Wang et al. 2011; Harbour et al. 2013) | |
| SF3B4 | None prevalent; various de novo mutations occur at several sites | U2 snRNP | Nager acrofacial dysostosis | AD | (Bernier et al. 2012; Petit et al. 2014) |
| EFTUD2 | Several either de novo 17q21.31 deletions encompassing EFTUD2 or de novo heterozygous EFTUD2 mutations | U5 snRNP | Mandibulofacial dysostosis type Guion-Almeida | AD | (Wieczorek et al. 2009; Lines et al. 2012) |
| PRPF6 | c.2185C>T (p.R729W) | U5 snRNP | RP | AD | (Tanackovic et al. 2011a) |
| PRPF8 | Various sites clustered within exon 42 | U5 snRNP | RP; MDS | AD | (McKie et al. 2001; Towns et al. 2010; Maubaret et al. 2011; Kurtovic-Kozaric et al. 2015; Ruzickova and Stanek 2017) |
| SNRNP200 | c.2653C>G (p.Q885E) | U5 snRNP | RP | AD | (Zhao et al. 2006; Liu et al. 2012) |
| TXNL4A | Most patients are compound heterozygous for a 34-bp deletion in the TXNL4A promoter (chr18:77,748,581-77,748,614del, GRCh37) and a truncating point mutation (e.g., c.131delT [p. Val44AlafsTer48] or another deletion (e.g., Ex3DEL) | U5 snRNP | Burn-McKeown syndrome | AR | (Wieczorek et al. 2014) |
| PRPF3 | Various (e.g., c.1482C>T [p.T494M]; c.1478C>T [p.P493S]) | U4/U6 snRNP | RP | AD | (Chakarova et al. 2002; Tanackovic et al. 2011b) |
| PRPF4 | c.944C>T (p.P315L); c.-114_-97del | U4/U6 snRNP | RP | AD | (Chen et al. 2014) |
| PRPF31 | Various | U4/U6 snRNP | RP | AD | (Vithana et al. 2001; Deery et al. 2002; Rivolta et al. 2006) |
| RNPC3 | Compound heterozygosity (p.P474T and p.R502*) | U11/U12 snRNP | Isolated growth hormone deficiency, type V | AR | (Argente et al., 2014) |
| RNU4ATAC | Various | U4atac snRNP | Lowry-Wood syndrome; Roifman syndrome; Microcephalic osteodysplastic primordial dwarfism type I | AR | (Edery et al., 2011; He et al., 2011; Merico et al., 2015; Scotti and Swanson, 2016) |
| PUF60 | Various | U2 snRNP; A complex | Verheij syndrome | AD | (Dauber et al., 2013; Low et al., 2017) |
| U2AF1 | c.101G>A (p.S34F); c.101G>T (p.S34Y); c.470T>C (p.Q157R) | U2 snRNP; A complex | MDS | (Graubert et al., 2011) | |
| RBM10 | Various | Recruited at A complex | TARP syndrome | XLR | (Johnston et al., 2010) |
| PQBP1 | Various | PRP19 complex; B complex | Renpenning syndrome | XLR | (Kalscheuer et al., 2003) |
| CWC27 | Various | Recruited at Bact complex | RP with or without skeletal anomalies | AR | (Xu et al., 2017) |
| DHX16 | Various | Recruited at Bact complex | Neuromuscular disease and ocular or auditory anomalies with or without seizures | AD | (Paine et al., 2019) |
| PRCC | Reciprocal translocation between chromosomes X and 1, t(X;1)(p11.2;q21.2) creating a PRCC-TFE3 hybrid transcript | Recruited at Bact complex | Papillary renal cell carcinoma | (Sidhar et al., 1996) | |
| RNF113A | Various | Recruited at Bact complex | Nonphotosensitive trichothiodystrophy 5 | XLD | (Corbett et al., 2015) |
| CXORF56 | c.159_160insTA (p.D54*) | Recruited at C complex | Mental retardation, X-linked 107 | XL | (Verkerk et al., 2018) |
| DDX41 | Various | Recruited at C complex | Susceptibility to familial myeloproliferative/lymphoproliferative neoplasms (e.g., MDS and AML) | AD | (Polprasert et al., 2015) |
| EIF4A3 | Expanded 16-repeat allele (initial CACA-20-nt motif followed by 13 repeats of CGCA-20-nt, 1 CACA-20-nt, and 1 final CA-18-nt motif) in the 5′ UTR | EJC/mRNP | Robin sequence with cleft mandible and limb anomalies | AR | (Favaro et al., 2014) |
| RBM8A | 200-kb deletion on 1q21.1 plus an additional RBM8A mutation (site varies; e.g., c.-21G>A) | EJC/mRNP | Thrombocytopenia-absent radius syndrome | AR | (Albers et al., 2012) |
| FUS | Various | hnRNP | ALS | (Reber et al., 2016) | |
| HNRNPA1 | c.941A>T (p.D314V); c.940G>A (p.D314N); c.956A>G (p.N319S) | hnRNP | Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3; ALS | AD | (Kim et al., 2013) |
| SMN1 | Various | All Sm snRNPs | Spinal muscular atrophy; myeloid neoplasms | AR | (Li et al., 2014; Yoshida and Ogawa, 2014; Malcovati et al., 2015; Verma et al., 2018) |
| Gene . | OMIM prevalent mutation sites . | Spliceosome complex . | Disease . | Inheritance . | References . |
|---|---|---|---|---|---|
| SNRPB | Various mutations in an alternatively spliced regulatory exon | Sm | Cerebro-costo-mandibular syndrome | AD | (Lynch et al. 2014; Bacrot et al. 2015; Tooley et al. 2016) |
| SNRPE | c.1A>G (p.M1?); c.133G>A (p.G45S) | Sm | Hypotrichosis 11 | AD | (Pasternack et al. 2013) |
| SF3B1 | Mutations clustered in exons 12 to 15; p.K700E; Other hotspots: p.E622; p.R625; p.H662; p.K666; p.I704; G742 | U2 snRNP | MDS; CMML; AML; solid tumors | (Papaemmanuil et al. 2011; Quesada et al. 2011; Wang et al. 2011; Harbour et al. 2013) | |
| SF3B4 | None prevalent; various de novo mutations occur at several sites | U2 snRNP | Nager acrofacial dysostosis | AD | (Bernier et al. 2012; Petit et al. 2014) |
| EFTUD2 | Several either de novo 17q21.31 deletions encompassing EFTUD2 or de novo heterozygous EFTUD2 mutations | U5 snRNP | Mandibulofacial dysostosis type Guion-Almeida | AD | (Wieczorek et al. 2009; Lines et al. 2012) |
| PRPF6 | c.2185C>T (p.R729W) | U5 snRNP | RP | AD | (Tanackovic et al. 2011a) |
| PRPF8 | Various sites clustered within exon 42 | U5 snRNP | RP; MDS | AD | (McKie et al. 2001; Towns et al. 2010; Maubaret et al. 2011; Kurtovic-Kozaric et al. 2015; Ruzickova and Stanek 2017) |
| SNRNP200 | c.2653C>G (p.Q885E) | U5 snRNP | RP | AD | (Zhao et al. 2006; Liu et al. 2012) |
| TXNL4A | Most patients are compound heterozygous for a 34-bp deletion in the TXNL4A promoter (chr18:77,748,581-77,748,614del, GRCh37) and a truncating point mutation (e.g., c.131delT [p. Val44AlafsTer48] or another deletion (e.g., Ex3DEL) | U5 snRNP | Burn-McKeown syndrome | AR | (Wieczorek et al. 2014) |
| PRPF3 | Various (e.g., c.1482C>T [p.T494M]; c.1478C>T [p.P493S]) | U4/U6 snRNP | RP | AD | (Chakarova et al. 2002; Tanackovic et al. 2011b) |
| PRPF4 | c.944C>T (p.P315L); c.-114_-97del | U4/U6 snRNP | RP | AD | (Chen et al. 2014) |
| PRPF31 | Various | U4/U6 snRNP | RP | AD | (Vithana et al. 2001; Deery et al. 2002; Rivolta et al. 2006) |
| RNPC3 | Compound heterozygosity (p.P474T and p.R502*) | U11/U12 snRNP | Isolated growth hormone deficiency, type V | AR | (Argente et al., 2014) |
| RNU4ATAC | Various | U4atac snRNP | Lowry-Wood syndrome; Roifman syndrome; Microcephalic osteodysplastic primordial dwarfism type I | AR | (Edery et al., 2011; He et al., 2011; Merico et al., 2015; Scotti and Swanson, 2016) |
| PUF60 | Various | U2 snRNP; A complex | Verheij syndrome | AD | (Dauber et al., 2013; Low et al., 2017) |
| U2AF1 | c.101G>A (p.S34F); c.101G>T (p.S34Y); c.470T>C (p.Q157R) | U2 snRNP; A complex | MDS | (Graubert et al., 2011) | |
| RBM10 | Various | Recruited at A complex | TARP syndrome | XLR | (Johnston et al., 2010) |
| PQBP1 | Various | PRP19 complex; B complex | Renpenning syndrome | XLR | (Kalscheuer et al., 2003) |
| CWC27 | Various | Recruited at Bact complex | RP with or without skeletal anomalies | AR | (Xu et al., 2017) |
| DHX16 | Various | Recruited at Bact complex | Neuromuscular disease and ocular or auditory anomalies with or without seizures | AD | (Paine et al., 2019) |
| PRCC | Reciprocal translocation between chromosomes X and 1, t(X;1)(p11.2;q21.2) creating a PRCC-TFE3 hybrid transcript | Recruited at Bact complex | Papillary renal cell carcinoma | (Sidhar et al., 1996) | |
| RNF113A | Various | Recruited at Bact complex | Nonphotosensitive trichothiodystrophy 5 | XLD | (Corbett et al., 2015) |
| CXORF56 | c.159_160insTA (p.D54*) | Recruited at C complex | Mental retardation, X-linked 107 | XL | (Verkerk et al., 2018) |
| DDX41 | Various | Recruited at C complex | Susceptibility to familial myeloproliferative/lymphoproliferative neoplasms (e.g., MDS and AML) | AD | (Polprasert et al., 2015) |
| EIF4A3 | Expanded 16-repeat allele (initial CACA-20-nt motif followed by 13 repeats of CGCA-20-nt, 1 CACA-20-nt, and 1 final CA-18-nt motif) in the 5′ UTR | EJC/mRNP | Robin sequence with cleft mandible and limb anomalies | AR | (Favaro et al., 2014) |
| RBM8A | 200-kb deletion on 1q21.1 plus an additional RBM8A mutation (site varies; e.g., c.-21G>A) | EJC/mRNP | Thrombocytopenia-absent radius syndrome | AR | (Albers et al., 2012) |
| FUS | Various | hnRNP | ALS | (Reber et al., 2016) | |
| HNRNPA1 | c.941A>T (p.D314V); c.940G>A (p.D314N); c.956A>G (p.N319S) | hnRNP | Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3; ALS | AD | (Kim et al., 2013) |
| SMN1 | Various | All Sm snRNPs | Spinal muscular atrophy; myeloid neoplasms | AR | (Li et al., 2014; Yoshida and Ogawa, 2014; Malcovati et al., 2015; Verma et al., 2018) |
AD autosomal dominant, ALS amyotrophic lateral sclerosis, AML acute myeloid leukemia, AR autosomal recessive, CMML, chronic myelomonocytic leukemia, EJC exon junction complex, hnRNP heterogeneous nuclear ribonucleoprotein, MDS myelodysplastic syndromes, mRNP messenger ribonucleoprotein, OMIM Online Mendelian Inheritance in Man®, RES retention and splicing, RP retinitis pigmentosa, XLD X-linked dominant, XLR X-linked recessive.
| Gene . | OMIM prevalent mutation sites . | Spliceosome complex . | Disease . | Inheritance . | References . |
|---|---|---|---|---|---|
| SNRPB | Various mutations in an alternatively spliced regulatory exon | Sm | Cerebro-costo-mandibular syndrome | AD | (Lynch et al. 2014; Bacrot et al. 2015; Tooley et al. 2016) |
| SNRPE | c.1A>G (p.M1?); c.133G>A (p.G45S) | Sm | Hypotrichosis 11 | AD | (Pasternack et al. 2013) |
| SF3B1 | Mutations clustered in exons 12 to 15; p.K700E; Other hotspots: p.E622; p.R625; p.H662; p.K666; p.I704; G742 | U2 snRNP | MDS; CMML; AML; solid tumors | (Papaemmanuil et al. 2011; Quesada et al. 2011; Wang et al. 2011; Harbour et al. 2013) | |
| SF3B4 | None prevalent; various de novo mutations occur at several sites | U2 snRNP | Nager acrofacial dysostosis | AD | (Bernier et al. 2012; Petit et al. 2014) |
| EFTUD2 | Several either de novo 17q21.31 deletions encompassing EFTUD2 or de novo heterozygous EFTUD2 mutations | U5 snRNP | Mandibulofacial dysostosis type Guion-Almeida | AD | (Wieczorek et al. 2009; Lines et al. 2012) |
| PRPF6 | c.2185C>T (p.R729W) | U5 snRNP | RP | AD | (Tanackovic et al. 2011a) |
| PRPF8 | Various sites clustered within exon 42 | U5 snRNP | RP; MDS | AD | (McKie et al. 2001; Towns et al. 2010; Maubaret et al. 2011; Kurtovic-Kozaric et al. 2015; Ruzickova and Stanek 2017) |
| SNRNP200 | c.2653C>G (p.Q885E) | U5 snRNP | RP | AD | (Zhao et al. 2006; Liu et al. 2012) |
| TXNL4A | Most patients are compound heterozygous for a 34-bp deletion in the TXNL4A promoter (chr18:77,748,581-77,748,614del, GRCh37) and a truncating point mutation (e.g., c.131delT [p. Val44AlafsTer48] or another deletion (e.g., Ex3DEL) | U5 snRNP | Burn-McKeown syndrome | AR | (Wieczorek et al. 2014) |
| PRPF3 | Various (e.g., c.1482C>T [p.T494M]; c.1478C>T [p.P493S]) | U4/U6 snRNP | RP | AD | (Chakarova et al. 2002; Tanackovic et al. 2011b) |
| PRPF4 | c.944C>T (p.P315L); c.-114_-97del | U4/U6 snRNP | RP | AD | (Chen et al. 2014) |
| PRPF31 | Various | U4/U6 snRNP | RP | AD | (Vithana et al. 2001; Deery et al. 2002; Rivolta et al. 2006) |
| RNPC3 | Compound heterozygosity (p.P474T and p.R502*) | U11/U12 snRNP | Isolated growth hormone deficiency, type V | AR | (Argente et al., 2014) |
| RNU4ATAC | Various | U4atac snRNP | Lowry-Wood syndrome; Roifman syndrome; Microcephalic osteodysplastic primordial dwarfism type I | AR | (Edery et al., 2011; He et al., 2011; Merico et al., 2015; Scotti and Swanson, 2016) |
| PUF60 | Various | U2 snRNP; A complex | Verheij syndrome | AD | (Dauber et al., 2013; Low et al., 2017) |
| U2AF1 | c.101G>A (p.S34F); c.101G>T (p.S34Y); c.470T>C (p.Q157R) | U2 snRNP; A complex | MDS | (Graubert et al., 2011) | |
| RBM10 | Various | Recruited at A complex | TARP syndrome | XLR | (Johnston et al., 2010) |
| PQBP1 | Various | PRP19 complex; B complex | Renpenning syndrome | XLR | (Kalscheuer et al., 2003) |
| CWC27 | Various | Recruited at Bact complex | RP with or without skeletal anomalies | AR | (Xu et al., 2017) |
| DHX16 | Various | Recruited at Bact complex | Neuromuscular disease and ocular or auditory anomalies with or without seizures | AD | (Paine et al., 2019) |
| PRCC | Reciprocal translocation between chromosomes X and 1, t(X;1)(p11.2;q21.2) creating a PRCC-TFE3 hybrid transcript | Recruited at Bact complex | Papillary renal cell carcinoma | (Sidhar et al., 1996) | |
| RNF113A | Various | Recruited at Bact complex | Nonphotosensitive trichothiodystrophy 5 | XLD | (Corbett et al., 2015) |
| CXORF56 | c.159_160insTA (p.D54*) | Recruited at C complex | Mental retardation, X-linked 107 | XL | (Verkerk et al., 2018) |
| DDX41 | Various | Recruited at C complex | Susceptibility to familial myeloproliferative/lymphoproliferative neoplasms (e.g., MDS and AML) | AD | (Polprasert et al., 2015) |
| EIF4A3 | Expanded 16-repeat allele (initial CACA-20-nt motif followed by 13 repeats of CGCA-20-nt, 1 CACA-20-nt, and 1 final CA-18-nt motif) in the 5′ UTR | EJC/mRNP | Robin sequence with cleft mandible and limb anomalies | AR | (Favaro et al., 2014) |
| RBM8A | 200-kb deletion on 1q21.1 plus an additional RBM8A mutation (site varies; e.g., c.-21G>A) | EJC/mRNP | Thrombocytopenia-absent radius syndrome | AR | (Albers et al., 2012) |
| FUS | Various | hnRNP | ALS | (Reber et al., 2016) | |
| HNRNPA1 | c.941A>T (p.D314V); c.940G>A (p.D314N); c.956A>G (p.N319S) | hnRNP | Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3; ALS | AD | (Kim et al., 2013) |
| SMN1 | Various | All Sm snRNPs | Spinal muscular atrophy; myeloid neoplasms | AR | (Li et al., 2014; Yoshida and Ogawa, 2014; Malcovati et al., 2015; Verma et al., 2018) |
| Gene . | OMIM prevalent mutation sites . | Spliceosome complex . | Disease . | Inheritance . | References . |
|---|---|---|---|---|---|
| SNRPB | Various mutations in an alternatively spliced regulatory exon | Sm | Cerebro-costo-mandibular syndrome | AD | (Lynch et al. 2014; Bacrot et al. 2015; Tooley et al. 2016) |
| SNRPE | c.1A>G (p.M1?); c.133G>A (p.G45S) | Sm | Hypotrichosis 11 | AD | (Pasternack et al. 2013) |
| SF3B1 | Mutations clustered in exons 12 to 15; p.K700E; Other hotspots: p.E622; p.R625; p.H662; p.K666; p.I704; G742 | U2 snRNP | MDS; CMML; AML; solid tumors | (Papaemmanuil et al. 2011; Quesada et al. 2011; Wang et al. 2011; Harbour et al. 2013) | |
| SF3B4 | None prevalent; various de novo mutations occur at several sites | U2 snRNP | Nager acrofacial dysostosis | AD | (Bernier et al. 2012; Petit et al. 2014) |
| EFTUD2 | Several either de novo 17q21.31 deletions encompassing EFTUD2 or de novo heterozygous EFTUD2 mutations | U5 snRNP | Mandibulofacial dysostosis type Guion-Almeida | AD | (Wieczorek et al. 2009; Lines et al. 2012) |
| PRPF6 | c.2185C>T (p.R729W) | U5 snRNP | RP | AD | (Tanackovic et al. 2011a) |
| PRPF8 | Various sites clustered within exon 42 | U5 snRNP | RP; MDS | AD | (McKie et al. 2001; Towns et al. 2010; Maubaret et al. 2011; Kurtovic-Kozaric et al. 2015; Ruzickova and Stanek 2017) |
| SNRNP200 | c.2653C>G (p.Q885E) | U5 snRNP | RP | AD | (Zhao et al. 2006; Liu et al. 2012) |
| TXNL4A | Most patients are compound heterozygous for a 34-bp deletion in the TXNL4A promoter (chr18:77,748,581-77,748,614del, GRCh37) and a truncating point mutation (e.g., c.131delT [p. Val44AlafsTer48] or another deletion (e.g., Ex3DEL) | U5 snRNP | Burn-McKeown syndrome | AR | (Wieczorek et al. 2014) |
| PRPF3 | Various (e.g., c.1482C>T [p.T494M]; c.1478C>T [p.P493S]) | U4/U6 snRNP | RP | AD | (Chakarova et al. 2002; Tanackovic et al. 2011b) |
| PRPF4 | c.944C>T (p.P315L); c.-114_-97del | U4/U6 snRNP | RP | AD | (Chen et al. 2014) |
| PRPF31 | Various | U4/U6 snRNP | RP | AD | (Vithana et al. 2001; Deery et al. 2002; Rivolta et al. 2006) |
| RNPC3 | Compound heterozygosity (p.P474T and p.R502*) | U11/U12 snRNP | Isolated growth hormone deficiency, type V | AR | (Argente et al., 2014) |
| RNU4ATAC | Various | U4atac snRNP | Lowry-Wood syndrome; Roifman syndrome; Microcephalic osteodysplastic primordial dwarfism type I | AR | (Edery et al., 2011; He et al., 2011; Merico et al., 2015; Scotti and Swanson, 2016) |
| PUF60 | Various | U2 snRNP; A complex | Verheij syndrome | AD | (Dauber et al., 2013; Low et al., 2017) |
| U2AF1 | c.101G>A (p.S34F); c.101G>T (p.S34Y); c.470T>C (p.Q157R) | U2 snRNP; A complex | MDS | (Graubert et al., 2011) | |
| RBM10 | Various | Recruited at A complex | TARP syndrome | XLR | (Johnston et al., 2010) |
| PQBP1 | Various | PRP19 complex; B complex | Renpenning syndrome | XLR | (Kalscheuer et al., 2003) |
| CWC27 | Various | Recruited at Bact complex | RP with or without skeletal anomalies | AR | (Xu et al., 2017) |
| DHX16 | Various | Recruited at Bact complex | Neuromuscular disease and ocular or auditory anomalies with or without seizures | AD | (Paine et al., 2019) |
| PRCC | Reciprocal translocation between chromosomes X and 1, t(X;1)(p11.2;q21.2) creating a PRCC-TFE3 hybrid transcript | Recruited at Bact complex | Papillary renal cell carcinoma | (Sidhar et al., 1996) | |
| RNF113A | Various | Recruited at Bact complex | Nonphotosensitive trichothiodystrophy 5 | XLD | (Corbett et al., 2015) |
| CXORF56 | c.159_160insTA (p.D54*) | Recruited at C complex | Mental retardation, X-linked 107 | XL | (Verkerk et al., 2018) |
| DDX41 | Various | Recruited at C complex | Susceptibility to familial myeloproliferative/lymphoproliferative neoplasms (e.g., MDS and AML) | AD | (Polprasert et al., 2015) |
| EIF4A3 | Expanded 16-repeat allele (initial CACA-20-nt motif followed by 13 repeats of CGCA-20-nt, 1 CACA-20-nt, and 1 final CA-18-nt motif) in the 5′ UTR | EJC/mRNP | Robin sequence with cleft mandible and limb anomalies | AR | (Favaro et al., 2014) |
| RBM8A | 200-kb deletion on 1q21.1 plus an additional RBM8A mutation (site varies; e.g., c.-21G>A) | EJC/mRNP | Thrombocytopenia-absent radius syndrome | AR | (Albers et al., 2012) |
| FUS | Various | hnRNP | ALS | (Reber et al., 2016) | |
| HNRNPA1 | c.941A>T (p.D314V); c.940G>A (p.D314N); c.956A>G (p.N319S) | hnRNP | Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3; ALS | AD | (Kim et al., 2013) |
| SMN1 | Various | All Sm snRNPs | Spinal muscular atrophy; myeloid neoplasms | AR | (Li et al., 2014; Yoshida and Ogawa, 2014; Malcovati et al., 2015; Verma et al., 2018) |
AD autosomal dominant, ALS amyotrophic lateral sclerosis, AML acute myeloid leukemia, AR autosomal recessive, CMML, chronic myelomonocytic leukemia, EJC exon junction complex, hnRNP heterogeneous nuclear ribonucleoprotein, MDS myelodysplastic syndromes, mRNP messenger ribonucleoprotein, OMIM Online Mendelian Inheritance in Man®, RES retention and splicing, RP retinitis pigmentosa, XLD X-linked dominant, XLR X-linked recessive.
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