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

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...

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Veröffentlicht in:	American journal of medical genetics. Part A 2021-06, Vol.185 (6), p.1666-1677
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	46,XY DSD Cytogenetics Development Biology Differences of sex development disorders of sex development Endocrinology Fluorescence in situ hybridization Genetic diversity Genetic variability Genitourinary tract Heredity Hybridization analysis Life Sciences Reproductive system Sex sex chromosomal abnormalities syndromic DSD whole exome sequencing
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