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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.

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

Mazen Inas, Mekkawy Mona, Kamel Alaa, Essawi Mona, Hassan Heba, Abdel-Hamid Mohamed, Amr Khalda, Soliman Hala, El-Ruby Mona, Torky Ahmed, El Gammal Mona, Elaidy Aya, Bashamboo Anu, McElreavey Kenneth

Abstract excerpt

Disorders/differences of sex development (DSD) comprise a group of congenital disorders that affect the genitourinary tract and usually involve the endocrine and reproductive system. The aim of this work was to identify genetic variants responsible for disorders of human urogenital development in a cohort of Egyptian patients. This three-year study included 225 patients with various DSD forms, referred to the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33742552
DOI: 10.1002/ajmg.a.62129

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