Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms-Reference-Cited by-同舟云学术

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Published:2016-12 Issue:1 Volume:8 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Stevens Servi J. C.,van Essen Anthonie J.,van Ravenswaaij Conny M. A.,Elias Abdallah F.,Haven Jaclyn A.,Lelieveld Stefan H.,Pfundt Rolph,Nillesen Willy M.,Yntema Helger G.,van Roozendaal Kees,Stegmann Alexander P.,Gilissen Christian,Brunner Han G.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13073-016-0386-9.pdf

Reference31 articles.

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2. Nagai R, Friedman SL, Kasuga M. The biology of Krüppel-like factors. Tokyo: Springer; 2009.

3. Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012;13(8):565–75.

4. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367(20):1921–9.

5. Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, et al. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014;46(9):944–50.

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