An expansion of phenotype: novel homozygous variant in the <i>MED17</i> identified in patients with progressive microcephaly and global developmental delay.

Rafiullah, Rafiullah; Albalawi, Alia M; Alaradi, Sultan R; Alluqmani, Majed; Mushtaq, Muhammad; Wali, Abdul; Basit, Sulman

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.

Rafiullah, Rafiullah; Albalawi, Alia M; Alaradi, Sultan R; Alluqmani, Majed; Mushtaq, Muhammad; Wali, Abdul; Basit, Sulman.

Afiliación

Rafiullah R; Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, Quetta, Pakistan.
Albalawi AM; Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia.
Alaradi SR; Department of Laboratory and Blood Bank, Alwajh General Hospital, Ministry of Health, Alwajh, Saudi Arabia.
Alluqmani M; College of Medicine, Taibah University, Madinah, Saudi Arabia.
Mushtaq M; Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, Quetta, Pakistan.
Wali A; Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, Quetta, Pakistan.
Basit S; Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia.

J Neurogenet ; 36(4): 108-114, 2022.

Article en En | MEDLINE | ID: mdl-36508181

Asunto(s)

Microcefalia; Niño; Humanos; Microcefalia/genética; Linaje; Encéfalo; Fenotipo; Homocigoto; Aminoácidos/genética; Discapacidades del Desarrollo/genética; Complejo Mediador/genética

Palabras clave

Consanguinity; MED17 mutation; homozygosity; intellectual disability

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Microcefalia Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: J Neurogenet Año: 2022 Tipo del documento: Article País de afiliación: Pakistán

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google