Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father.

Damji, Rahim Karim; Alimohamed, Mohamed Zahir; Claahsen-van der Grinten, Hedi L; Westra, Dineke; Hamel, Ben

Damji, Rahim Karim; Alimohamed, Mohamed Zahir; Claahsen-van der Grinten, Hedi L; Westra, Dineke; Hamel, Ben.

Afiliación

Damji RK; Department of Paediatrics, Regency Medical Centre, Dar es Salaam, Tanzania.
Alimohamed MZ; Shree Hindu Mandal Hospital, Dar es Salaam, Tanzania.
Claahsen-van der Grinten HL; Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Westra D; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Hamel B; Tanzania Human Genetics Organization, Dar es Salaam, Tanzania.

Endocrinol Diabetes Metab Case Rep ; 2023(2)2023 Apr 01.

Article en En | MEDLINE | ID: mdl-37185284

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Guideline Idioma: En Revista: Endocrinol Diabetes Metab Case Rep Año: 2023 Tipo del documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Guideline Idioma: En Revista: Endocrinol Diabetes Metab Case Rep Año: 2023 Tipo del documento: Article