Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis-Reference-Cited by-同舟云学术

Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis

Published:2014-08 Issue:2 Volume:95 Page:235-240
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Smith Joshua D.,Hing Anne V.,Clarke Christine M.,Johnson Nathan M.,Perez Francisco A.,Park Sarah S.,Horst Jeremy A.,Mecham Brig,Maves Lisa,Nickerson Deborah A.,Cunningham Michael L.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

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3. Frontonasal “dysplasia,” cerebral anomalies, and polydactyly: Report of a new syndrome and discussion from a developmental field perspective;Toriello;Am. J. Med. Genet. Suppl.,1986

4. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome;Ng;Nat. Genet.,2010

5. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat. Rev. Genet.,2011

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