A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.

Mazen, Inas; Kamel, Alaa; McElreavey, Kenneth; Bashamboo, Anu; Elaidy, Aya; Abdel-Hamid, Mohamed S

Mazen, Inas; Kamel, Alaa; McElreavey, Kenneth; Bashamboo, Anu; Elaidy, Aya; Abdel-Hamid, Mohamed S.

Afiliación

Mazen I; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Kamel A; Department of Human Cytogenetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
McElreavey K; Human Developmental Genetics, Institut Pasteur, Paris, France.
Bashamboo A; Human Developmental Genetics, Institut Pasteur, Paris, France.
Elaidy A; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Abdel-Hamid MS; Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Sex Dev ; 16(4): 261-265, 2022.

Article en En | MEDLINE | ID: mdl-35045414

Asunto(s)

Disgenesia Gonadal 46 XY; Proteínas Hedgehog; Femenino; Humanos; Proteínas Hedgehog/genética; Proteínas Hedgehog/metabolismo; Disgenesia Gonadal 46 XY/diagnóstico; Mutación Missense/genética; Homocigoto; Fenotipo; Mutación; Aciltransferasas/genética

Palabras clave

46,XY DSD; Egyptian patient; Exome sequencing; Hedgehog acyltransferase; Missense variant

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas Hedgehog / Disgenesia Gonadal 46 XY Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Sex Dev Asunto de la revista: CIENCIAS DO COMPORTAMENTO Año: 2022 Tipo del documento: Article

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