1-5 of 5
Authors: Sara Benito-Sanz
Save search
Sort by
Journal Article

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies Get access

PDF
Lucía Sentchordi-Montané and others
European Journal of Endocrinology, Volume 185, Issue 5, Nov 2021, Pages 691–705, https://doi.org/10.1530/EJE-21-0557
Published: 11 October 2021
Journal Article

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants Free

PDF
Lucía Sentchordi-Montané and others
The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 8, August 2020, Pages 2654–2666, https://doi.org/10.1210/clinem/dgaa218
Published: 20 April 2020
Journal Article

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype Free

PDF
Shaheena Parween and others
The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 4, April 2020, Pages e1272–e1290, https://doi.org/10.1210/clinem/dgaa076
Published: 15 February 2020
Journal Article

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis Free

PDF
Alfonso Hisado-Oliva and others
The Journal of Clinical Endocrinology & Metabolism, Volume 100, Issue 8, 1 August 2015, Pages E1133–E1142, https://doi.org/10.1210/jc.2015-1612
Published: 01 August 2015
Journal Article

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer Get access

PDF
Miriam Aza-Carmona and others
Human Molecular Genetics, Volume 20, Issue 8, 15 April 2011, Pages 1547–1559, https://doi.org/10.1093/hmg/ddr032
Published: 24 January 2011