Xq28 duplication overlapping theint22h-1/int22h-2region and includingRAB39BandCLIC2in a family with intellectual and developmental disability
Author:
Affiliation:
1. Cytogenetics and Genomic Microarray; ARUP Laboratories; Salt Lake City Utah
2. Department of Pathology; University of Utah; Salt Lake City Utah
3. Department of Pediatrics, Division of Genetics; Maine Medical Center; Portland Maine
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36524/fullpdf
Reference21 articles.
1. Short stature due to SHOX deficiency: Genotype, phenotype, and therapy;Binder;Horm Res Paediatr,2011
2. Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males;Casana;Br J Haematol,2012
3. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE;Celestino-Soper;Hum Mol Genet,2011
4. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism;Celestino-Soper;Proc Natl Acad Sci USA,2012
5. Regulation of the cardiac muscle ryanodine receptor by glutathione transferases;Dulhunty;Drug Metab Rev,2011
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