Recurrent Intragenic Duplication within the <b><i>NR5A1</i></b> Gene and Severe Proximal Hypospadias
Matthieu Peycelon(Inserm), Jean‐Pierre Siffroi(Sorbonne Université), Capucine Hyon(Inserm), Muriel Houang(Inserm), Marie Legendre(Inserm), Nathalie Collot(Inserm), Marie-Dominique Bouvier(Sorbonne Université), Lamisse Mansour‐Hendili(Délégation Paris 5), M. Chabaud, G. Audry(Sorbonne Université), Serge Amselem(Inserm)
Cited by 8
Related Papers
In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene
|The American Journal of Human Genetics|2003|518
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
|Nature Genetics|2005|504
<i>MUC5B</i> Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease
|New England Journal of Medicine|2018|501
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
|Nature Genetics|2000|368
11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations
|The Journal of Clinical Endocrinology & Metabolism|2007|312