Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans-Reference-Cited by-同舟云学术

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

Published:2014-04-30 Issue:2 Volume:23 Page:165-172
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ercan-Sencicek A Gulhan,Jambi Samira,Franjic Daniel,Nishimura Sayoko,Li Mingfeng,El-Fishawy Paul,Morgan Thomas M,Sanders Stephan J,Bilguvar Kaya,Suri Mohnish,Johnson Michele H,Gupta Abha R,Yuksel Zafer,Mane Shrikant,Grigorenko Elena,Picciotto Marina,Alberts Arthur S,Gunel Murat,Šestan Nenad,State Matthew W

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201482.pdf

Reference39 articles.

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2. Bilguvar K, Ozturk AK, Louvi A et al: Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010; 467: 207–210.

3. Thornton GK, Woods CG : Primary microcephaly: do all roads lead to Rome? Trends Genet 2009; 25: 501–510.

4. Shinohara R, Thumkeo D, Kamijo H et al: A role for mDia, a Rho-regulated actin nucleator, in tangential migration of interneuron precursors. Nat Neurosci 2012; 15: S371–S372.

5. Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC : Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997; 278: 1315–1318.

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