Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a <i>GATA3</i> splice site mutation leading to the activation of a cryptic splice site.

Gonçalves, Catarina I; Carriço, Josianne N; Omar, Omneya M; Abdalla, Ebtesam; Lemos, Manuel C

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site.

Gonçalves, Catarina I; Carriço, Josianne N; Omar, Omneya M; Abdalla, Ebtesam; Lemos, Manuel C.

Afiliación

Gonçalves CI; CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal.
Carriço JN; CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal.
Omar OM; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Lemos MC; CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal.

Front Endocrinol (Lausanne) ; 14: 1207425, 2023.

Article en En | MEDLINE | ID: mdl-37600721

Asunto(s)

Sordera; Hipoparatiroidismo; Femenino; Humanos; Niño; Sitios de Empalme de ARN; Hipoparatiroidismo/complicaciones; Hipoparatiroidismo/genética; Mutación; Factor de Transcripción GATA3/genética

Palabras clave

GATA3; HDR syndrome; cryptic splice site; deafness; hypoparathyroidism; renal dysplasia; splice site mutation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sordera / Hipoparatiroidismo Límite: Child / Female / Humans Idioma: En Revista: Front Endocrinol (Lausanne) Año: 2023 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Suiza

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