An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability-Reference-Cited by-同舟云学术

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Published:2016-04-22 Issue:7 Volume:135 Page:757-771
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Labonne Jonathan D. J.,Lee Kang-Han,Iwase Shigeki,Kong Il-Keun,Diamond Michael P.,Layman Lawrence C.,Kim Cheol-Hee,Kim Hyung-Goo

Funder

National Institute of Neurological Disorders and Stroke

Cooley's Anemia Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-016-1668-4.pdf

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4. Balan S, Iwayama Y, Maekawa M, Toyota T, Ohnishi T, Toyoshima M, Shimamoto C, Esaki K, Yamada K, Iwata Y, Suzuki K, Ide M, Ota M, Fukuchi S, Tsujii M, Mori N, Shinkai Y, Yoshikawa T (2014) Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects. Mol Autism 5:49

5. Baple E, Palmer R, Hennekam RC (2010) A microdeletion at 12q24.31 can mimic Beckwith-Wiedemann syndrome neonatally. Mol Syndromol 1:42–45

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