Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.

Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E

Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E.

Afiliación

Kouri C; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Sommer G; Department of BioMedical Research (DBMR), University of Bern, Bern, Switzerland.
Flück CE; Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland.

Horm Res Paediatr ; 96(2): 169-179, 2023.

Article en En | MEDLINE | ID: mdl-34537773

Asunto(s)

Trastorno del Desarrollo Sexual 46,XY; Humanos; Mutación; Trastorno del Desarrollo Sexual 46,XY/genética; Genotipo; Fenotipo; Familia

Palabras clave

17b-Hydroxysteroid dehydrogenase type 3; Mastermind-like domain-containing protein 1; Androgen receptor; Differences of sex development; Genetics of sex determination; Genetics of sex differentiation; Human genetics; Hydroxy-Delta-5-Steroid Dehydrogenase 3 Beta- And Steroid Delta-Isomerase 2; Mitogen-activated protein kinase kinase kinase 1; Oligogenic disorders; Steroidogenic factor 1 (nuclear receptor subfamily 5 group A member 1); Zinc finger protein, friend of GATA family member 2 and GATA Binding Protein 4

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastorno del Desarrollo Sexual 46,XY Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Horm Res Paediatr Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2023 Tipo del documento: Article

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