A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins-Reference-Cited by-同舟云学术

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

Published:2017-04 Issue:4 Volume:60 Page:212-216
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Hertecant Jozef,Komara Makanko,Nagi Aslam,Al-Zaabi Olfat,Fathallah Waseem,Cui Hong,Yang Yaping,Eng Christine M.,Al Sorkhy Mohammad,Ghattas Mohammad A.^ORCID,Al-Gazali Lihadh,Ali Bassam R.

Funder

United Arab Emirates University

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. PAK3 mutation in nonsyndromic X-linked mental retardation;Allen;Nat. Genet.,1998

2. Role of group A p21-activated kinases in activation of extracellular-regulated kinase by growth factors;Beeser;J. Biol. Chem.,2005

3. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation;Bienvenu;Am. J. Med. Genet.,2000

4. Biology of the p21-activated kinases;Bokoch;Annu. Rev. Biochem.,2003

5. Mental retardation in childhood: clinical and diagnostic profile in 100 children;Bradinova;Genet. Couns.,2005

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