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Article

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2017

Peycelon Matthieu, Mansour-Hendili Lamisse, Hyon Capucine, Collot Nathalie, Houang Muriel, Legendre Marie, Chabaud Maud, Bouvier Marie-Dominique, Audry Georges, Amselem Serge, Siffroi Jean-Pierre

Abstract excerpt

A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been...

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Identifiers

PMID: 29332064
DOI: 10.1159/000485909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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