High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.

Ouboukss, Fatima; Adadi, Najlae; Amasdl, Saadia; Smaili, Wiam; Laarabi, Fatima Zahra; Lyahyai, Jaber; Sefiani, Abdelaziz; Ratbi, Ilham

Ouboukss, Fatima; Adadi, Najlae; Amasdl, Saadia; Smaili, Wiam; Laarabi, Fatima Zahra; Lyahyai, Jaber; Sefiani, Abdelaziz; Ratbi, Ilham.

Afiliação

Ouboukss F; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco. Fatimaouboukss@gmail.com.
Adadi N; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco. Fatimaouboukss@gmail.com.
Amasdl S; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.
Smaili W; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.
Laarabi FZ; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.
Lyahyai J; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.
Sefiani A; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.
Ratbi I; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.

J Appl Genet ; 65(2): 303-308, 2024 May.

Article em En | MEDLINE | ID: mdl-37987971

Assuntos

Síndrome de Noonan; Proteína Tirosina Fosfatase não Receptora Tipo 11; alfa-Macroglobulinas; Humanos; Éxons; Peptídeos e Proteínas de Sinalização Intracelular/genética; Mutação; Síndrome de Noonan/genética; Síndrome de Noonan/diagnóstico; Síndrome de Noonan/patologia; Fenótipo; Proteína Tirosina Fosfatase não Receptora Tipo 11/genética; Proteínas Ativadoras de ras GTPase/genética; Proteínas Repressoras/genética; Fatores de Transcrição/genética

Palavras-chave

PTPN11 gene; High hotspot frequency; Moroccan; Noonan syndrome; Pathogenic variant

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alfa-Macroglobulinas / Proteína Tirosina Fosfatase não Receptora Tipo 11 / Síndrome de Noonan Limite: Humans Idioma: En Revista: J Appl Genet Assunto da revista: GENETICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Marrocos

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