Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2-Reference-Cited by-同舟云学术

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Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2

Published:2020-03 Issue:3 Volume:63 Page:103769
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Inui Takehiko,Iwama Kazuhiro,Miyabayashi Takuya,Sato Ryo,Okubo Yukimune,Endo Wakaba,Togashi Noriko,Kakisaka Yosuke,Kikuchi Atsuo,Mizuguchi Takeshi,Kure Shigeo,Matsumoto Naomichi,Haginoya Kazuhiro

Funder

Japan Agency for Medical Research and Development

JSPS KAKENHI

Ministry of Health, Labour, and Welfare

Takeda Science Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference32 articles.

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat. Genet.,1999

2. Pediatric autonomic disorders;Axelrod;Pediatrics,2006

3. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome;Cuddapah;J. Med. Genet.,2014

4. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth;Fromer;Am. J. Hum. Genet.,2012

5. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males;del Gaudio;Genet Med,2006

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