Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient-Reference-Cited by-同舟云学术

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Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient

Published:2018-09-12 Issue:1 Volume:74 Page:56-60
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Int. j. dev. neurosci.

Author:

Liu Min¹,Wang Yuhuan¹,Yang Sijia²,Wei He¹,Tuo Miao¹,Chang Fei¹,Wang Yuhui³

Affiliation:

1. Department of NeurologyThe Affiliated Hospital of Medical College, Qingdao UniversityQingdaoChina

2. Department of Thoracic SurgeryThe First Affiliated Hospital of Zhejiang UniversityHangzhouChina

3. Department of Operating roomDezhou municipal hospitalDezhouChina

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.ijdevneu.2018.09.004

Reference28 articles.

1. Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome;Bing Q.;Clin. Neuropathol.,2013

2. A functional mutation in HDAC8 gene as novel diagnostic marker for Cornelia De Lange syndrome;Gao X.;Cell. Physiol. Biochem.,2018

3. Skewed X‐inactivation in a family with DLG3‐associated X‐linked intellectual disability;Gieldon L.;Am. J. Med. Genet. A,2017

4. A new X‐linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the alpha 4 gene at Xq13;Graham J.M.;Am. J. Med. Genet. A,2003

5. X‐exome sequencing identifies a HDAC8 variant in a large pedigree with X‐linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face;Harakalova M.;J. Med. Genet.,2012

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