New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Werner, R; Monig, I; Lunstedt, R; Wunsch, L; Thorns, C; Reiz, B; Krause, A; Schwab, KO; Binders, G; Holterhus, PM; Hiort, O

Hiort, O (reprint author), Univ Lubeck, Dept Paediat & Adolescent Med, Div Expt Paediat Endocrinol & Diabet, Lubeck, Germany.

PLOS ONE, 2017; 12 (5):

Abstract

Mutations in NR5A1 have been reported as a frequent cause of 46, XY disorders of sex development (DSD) associated to a broad phenotypic spectrum rangi......

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