A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.

Elbagoury, Nagham M; Abdel-Aleem, Asmaa F; Sharaf-Eldin, Wessam E; Ashaat, Engy A; Esswai, Mona L

Elbagoury, Nagham M; Abdel-Aleem, Asmaa F; Sharaf-Eldin, Wessam E; Ashaat, Engy A; Esswai, Mona L.

Afiliação

Elbagoury NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Abdel-Aleem AF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. asmaafawzy85@yahoo.com.
Sharaf-Eldin WE; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Esswai ML; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

J Mol Neurosci ; 73(11-12): 976-982, 2023 Dec.

Article em En | MEDLINE | ID: mdl-37924468

Assuntos

Síndrome Brânquio-Otorrenal; Deficiência Intelectual; Feminino; Humanos; Síndrome Brânquio-Otorrenal/genética; Exoma; Genes Recessivos; Deficiência Intelectual/genética; Mutação; Linhagem

Palavras-chave

Facial dysmorphism; Intellectual disability; Otofaciocervical syndrome; PAX1 gene; Whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome Brânquio-Otorrenal / Deficiência Intelectual Limite: Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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