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Authors: Sara Benito-Sanz
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Journal Article

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

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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

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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

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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