Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in rett syndrome-Reference-Cited by-同舟云学术

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Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in rett syndrome

Published:2013-05-21 Issue:7 Volume:161 Page:1638-1646
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chapleau Christopher A.¹,Lane Jane²,Kirwin Susan M.³,Schanen Carolyn³,Vinette Kathy M.B.³,Stubbolo Danielle³,MacLeod Patrick⁴,Percy Alan K.²

Affiliation:

1. Department of Pharmacy, Civitan International Research Center; The University of Alabama at Birmingham; Birmingham; Alabama

2. Department of Pediatrics; Civitan International Research Center; The University of Alabama at Birmingham; Birmingham; Alabama

3. Biomedical Research Department; Nemours/Alfred I. duPont Hospital for Children; Wilmington; Delaware

4. Laboratory Medicine and Medical Genetics, Division of Medical Genetics, Department of Pathology; Victoria General Hospital; Victoria; Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35979/fullpdf

Reference36 articles.

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

2. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes;Amir;Ann Neurol,2000

3. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group;Antonarakis;Hum Mutat,1998

4. Variable phenotypic expression of a MECP2 mutation in a family;Augenstein;J Neurodev Disord,2009

5. Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy;Blair;J Med Genet,2001

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutation spectrum in the gene encoding methyl-CpG-binding protein 2 in Egyptian patients with Rett syndrome;Meta Gene;2020-06

2. First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A > G mutation in the MT-RNR1 gene associated with angelman-like syndrome;INT J DEV NEUROSCI;2019

3. First description of an unusual novel double mutation in MECP 2 co‐occurring with the m.827A>G mutation in the MT‐RNR1 gene associated with angelman‐like syndrome;International Journal of Developmental Neuroscience;2019-10-21

4. Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome;Journal of Child Neurology;2017-04-11

5. Erratum to “Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638-1646;American Journal of Medical Genetics Part A;2014-04-14

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