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Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.

Pubmed ID: 
31018998
Year: 
2019
Month: 
Jul
Volume: 
56
Issue: 
7
Citation: 
Ayers K, van den Bergen J, Robevska G, Listyasari N, Raza J, Atta I, Riedl S, Rothacker K, Choong C, Faradz SMH, Sinclair A. Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development. JOURNAL OF MEDICAL GENETICS 56 (7) : 434 - 443(2019) PubMed