Medical College of Wisconsin
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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet 2016 12 01;25(23):5286

Date

12/30/2016

Pubmed ID

28031288

Pubmed Central ID

PMC5886042

DOI

10.1093/hmg/ddw390

Scopus ID

2-s2.0-85016044077   15 Citations

Author List

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

Author

Patricia A. Donohoue MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin