A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder-Reference-Cited by-同舟云学术

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

Published:2012-11-12 Issue:12 Volume:33 Page:1639-1646
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Puffenberger Erik G.,Jinks Robert N.,Wang Heng,Xin Baozhong,Fiorentini Christopher,Sherman Eric A.,Degrazio Dominick,Shaw Calvin,Sougnez Carrie,Cibulskis Kristian,Gabriel Stacey,Kelley Richard I.,Morton D. Holmes,Strauss Kevin A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference34 articles.

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2. Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain;Broman;Am J Hum Genet,1999

3. Contact in the genetics of autism and schizophrenia;Burbach;Trends Neurosci,2009

4. Prader-Willi syndrome;Cassidy;Eur J Hum Genet,2009

5. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13);Christian;Hum Mol Genet,1999

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