A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family-Reference-Cited by-同舟云学术

A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family

Published:2017-03 Issue:2 Volume:37 Page:148-153
ISSN:0256-4947
Container-title:Annals of Saudi Medicine
language:en
Short-container-title:Annals of Saudi Medicine

Author:

Naseer Muhammad Imran¹,Rasool Mahmood¹,Sogaty Sameera²,Chaudhary Rukhaa Adeel³,Mansour Haifa Mansour³,Chaudhary Adeel G.¹,Abuzenadah Adel M.¹,Al-Qahtani Mohammad H.¹

Affiliation:

1. Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia

2. Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia

3. Faculty of Applied Medical Sciences, Medical Laboratory Technology, King Abdulaziz University, Jeddah, Saudi Arabia

Publisher

King Faisal Specialist Hospital and Research Centre

Subject

General Medicine

Reference44 articles.

1. Molecular genetics of human primary microcephaly: An overview;Faheem M;BMC Med Genomics,2015

2. Genetic study of microcephaly based on Japanese material;Komai T;Am J Hum Gen,1955

3. Microcephaly in the Netherlands: a clinical and genetical study;Bosch JVD;Ann Hum Gen,1959

4. What primary microcephaly can tell us about brain growth;Cox J;Trends Mol Med,2006

5. Many roads lead to primary autosomal recessive microcephaly;Kaindl AM;Prog Neurobiol,2010

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