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© Research
Publication : Human molecular genetics

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Team: Human Developmental Genetics
Member: Denis Houzelstein
Member: Kenneth McElreavey
Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Human molecular genetics - 01 Dec 2016

Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, , Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC

Link to Pubmed [PMID] – 28031288

Hum. Mol. Genet. 2016 12;25(23):5286