Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature

Leri–Weill dyschondrosteosis is a pseudoautosomal dominantly‐inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, point mutations, or partial duplications of the gene, or to heterozygous deletions upstream or downstream of the intact SHOX gene involving c...

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 170A; no. 4; pp. 949 - 957
Main Authors:	Bunyan, David J., Baffico, Maria, Capone, Lucia, Vannelli, Silvia, Iughetti, Lorenzo, Schmitt, Sébastien, Taylor, Emma-Jane, Herridge, Adam A., Shears, Deborah, Forabosco, Antonino, Coviello, Domenico A.
Format:	Journal Article
Language:	English
Published:	United States Blackwell Publishing Ltd 01.04.2016 Wiley Subscription Services, Inc
Subjects:	Adolescent Adult Bone dysplasia Child Child, Preschool Chromosome Duplication Cohort Studies Comparative Genomic Hybridization Deoxyribonucleic acid DNA Duplication Dwarfism - diagnosis Dwarfism - genetics Female Genomes Growth Disorders - diagnosis Growth Disorders - genetics Haploinsufficiency Haplotypes Homeodomain Proteins - genetics Humans Hybridization Male Mutation Osteochondrodysplasias - diagnosis Osteochondrodysplasias - genetics Pedigree Phenotype Regulatory element Short Stature Homeobox Protein SHOX Skeleton Young Adult Duplication SHOX Regulatory element
ISSN:	1552-4825, 1552-4833, 1552-4833
Online Access:	Get full text
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