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Article

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.

American journal of medical genetics. Part A - 1 Sept 2021

Abualsaud Dalia, Hashem Mais, AlHashem Amal, Alkuraya Fowzan S

Abstract excerpt

Disorders of sex development (DSD) are congenital conditions with atypical development of chromosomal, gonadal, or anatomical sex. The estimated incidence ranges from 1 in 4,500-5,500 for strictly defined "ambiguous genitalia" to 1 in 300 or higher when a broader definition is implemented. In this study, we aim to define DSD phenotypes encountered in a large heterogeneous cohort of molecularly characterized...

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Source

Identifiers

PMID: 32949114
DOI: 10.1002/ajmg.a.61876

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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