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Article

46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred.

American journal of medical genetics. Part A - 1 Jan 2003

Le Caignec Cédric, Baron Sabine, McElreavey Ken, Joubert Madeleine, Rival Jean-Marie, Mechinaud Françoise, David Albert

Abstract excerpt

46,XY gonadal dysgenesis is characterized by abnormal testicular determination. We describe a large kindred in which various disorders of sexual development were observed, ranging from completely female phenotype without ambiguities of the external genitalia (five cases) to men with isolated penile or perineal hypospadias (four cases), including two cases with moderate virilization and one case with ambiguity of...

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PMID: 12476449
DOI: 10.1002/ajmg.a.10820

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

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