A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
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; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC.
Bashamboo A, et al. Among authors: mulukutla sn.
Hum Mol Genet. 2016 Dec 1;25(23):5286. doi: 10.1093/hmg/ddw390.
Hum Mol Genet. 2016.
PMID: 28031288
Free PMC article.
No abstract available.