Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases.

Fong, Nikki; Wei, Heming; Lim, Jiin Ying; Goh, Chew-Yin Jasmine; Kam, Sylvia; Jamuar, Saumya Shekhar; Tan, Ene-Choo

Fong, Nikki; Wei, Heming; Lim, Jiin Ying; Goh, Chew-Yin Jasmine; Kam, Sylvia; Jamuar, Saumya Shekhar; Tan, Ene-Choo.

Afiliação

Fong N; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
Wei H; Research Laboratory, KK Women's and Children's Hospital, Singapore.
Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
Goh CJ; Division of Nursing - Nursing Specialist Service, KK Women's and Children's Hospital, Singapore.
Kam S; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
Tan EC; SingHealth Duke-NUS Academic Clinical Programme, Singapore.

Am J Med Genet A ; 188(2): 672-675, 2022 02.

Article em En | MEDLINE | ID: mdl-34738299

Assuntos

Deficiência Intelectual; Humanos; Deficiência Intelectual/diagnóstico; Deficiência Intelectual/genética; Masculino; Fenótipo; Ubiquitina Tiolesterase/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Singapura

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