X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&gt;C mutation in the ATRX gene.

Shakarami, Fatemeh; Jahani, Mehdi; Nouri, Zahra; Tabatabaiefar, Mohammad Amin

X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.

Shakarami, Fatemeh; Jahani, Mehdi; Nouri, Zahra; Tabatabaiefar, Mohammad Amin.

Afiliação

Shakarami F; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Jahani M; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Nouri Z; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Tabatabaiefar MA; Genetics Department, Erythron Pathobiology and Genetics Lab, Isfahan, Iran.

Mol Genet Genomic Med ; 10(10): e2034, 2022 10.

Article em En | MEDLINE | ID: mdl-35962714

Assuntos

Deficiência Intelectual; Deficiência Intelectual Ligada ao Cromossomo X; Microcefalia; Surdez; Exoma; Feminino; Transtornos do Crescimento; Humanos; Hipogonadismo; Deficiência Intelectual/complicações; Deficiência Intelectual/genética; Deficiência Intelectual Ligada ao Cromossomo X/genética; Microcefalia/genética; Mutação; Proteína Nuclear Ligada ao X/genética

Palavras-chave

ATRX; Exome sequencing; Iranian population; X-linked mental retardation; XLMR; primary microcephaly

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Ligada ao Cromossomo X / Deficiência Intelectual / Microcefalia Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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