De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome-Reference-Cited by-同舟云学术

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Published:2013 Issue:2 Volume:5 Page:11
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Medicine

Author:

Bainbridge Matthew N,Hu Hao,Muzny Donna M,Musante Luciana,Lupski James R,Graham Brett H,Chen Wei,Gripp Karen W,Jenny Kim,Wienker Thomas F,Yang Yaping,Sutton V Reid,Gibbs Richard A,Ropers H Hilger

Publisher

Springer Science and Business Media LLC

Subject

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

Reference12 articles.

1. Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

2. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

3. Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

4. Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads

5. Deep sequencing reveals 50 novel genes for recessive cognitive disorders

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