The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.

Alrayes, Nuha; Mohamoud, Hussein Sheikh Ali; Ahmed, Saleem; Almramhi, Mona Mohammad; Shuaib, Taghreed Mohammad; Wang, Jun; Al-Aama, Jumana Yousuf; Everett, Kate; Nasir, Jamal; Jelani, Musharraf

Alrayes, Nuha; Mohamoud, Hussein Sheikh Ali; Ahmed, Saleem; Almramhi, Mona Mohammad; Shuaib, Taghreed Mohammad; Wang, Jun; Al-Aama, Jumana Yousuf; Everett, Kate; Nasir, Jamal; Jelani, Musharraf.

Afiliação

Alrayes N; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Cell Sciences and Genetics Research Centre, St. George's University of London (SGUL), London SW17 0RE, United Kingdom.
Mohamoud HS; Cell Sciences and Genetics Research Centre, St. George's University of London (SGUL), London SW17 0RE, United Kingdom.
Ahmed S; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
Almramhi MM; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Shuaib TM; Department of Paediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Wang J; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; BGI-Shenzhen, Shenzhen 518083, China.
Al-Aama JY; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Everett K; Cell Sciences and Genetics Research Centre, St. George's University of London (SGUL), London SW17 0RE, United Kingdom.
Nasir J; Cell Sciences and Genetics Research Centre, St. George's University of London (SGUL), London SW17 0RE, United Kingdom.
Jelani M; Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Medical Genetics and Molecular Biology Unit, Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan. Electronic

J Neurol Sci ; 363: 240-4, 2016 Apr 15.

Article em En | MEDLINE | ID: mdl-27000257

Assuntos

Transtorno Autístico/genética; Consanguinidade; Microcefalia/diagnóstico; Microcefalia/genética; Oxigenases de Função Mista/genética; Sequência de Aminoácidos; Sequência de Bases; Criança; Humanos; Deficiência Intelectual/diagnóstico; Deficiência Intelectual/genética; Masculino; Linhagem; Arábia Saudita

Palavras-chave

Alkylglycerol monooxygenase; Autosomal recessive primary microcephaly; Frameshift deletion mutation; Novel homozygous; Saudi Arabia; Whole exome sequencing

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Consanguinidade / Oxigenases de Função Mista / Microcefalia Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Child / Humans / Male País/Região como assunto: Asia Idioma: En Revista: J Neurol Sci Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google