GPSM2 mutations in Chudley-McCullough syndrome.
作者信息
Diaz-Horta Oscar, Sirmaci Asli, Doherty Dan, Nance Walter, Arnos Kathleen, Pandya Arti, Tekin Mustafa
机构信息
Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.
出版信息
Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14.
Abstract
摘要
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本文引用的文献
1
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.GPSM2 突变导致 Chudley-McCullough 综合征的脑畸形和听力损失。
Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10.
2
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.GPSM2 中的截断突变与隐性非综合征性听力损失有关。
Clin Genet. 2012 Mar;81(3):289-93. doi: 10.1111/j.1399-0004.2011.01654.x. Epub 2011 Mar 15.
3
Chudley-McCullough syndrome: another report and a brief review of the literature.Chudley-McCullough综合征：另一例报告及文献简要综述
Clin Dysmorphol. 2011 Apr;20(2):107-110. doi: 10.1097/MCD.0b013e328341d007.
4
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.全外显子测序和纯合子作图确定细胞极性蛋白 GPSM2 中的突变是常染色体隐性遗传性耳聋 DFNB82 的致病原因。
Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.
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Chudley-McCullough syndrome: expanded phenotype and review of the literature.
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