Open AccessHeight and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases
Author(s) -
Bu Kyung Kim,
Young Bae Sohn,
Sang-Jin Park,
Shin-Young Yim,
YoonSok Chung
Publication year - 2013
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
ISSN - 2383-8442
DOI - 10.5734/jgm.2013.10.2.120
Subject(s) - short stature , tbx1 , bone mineral , phenotype , comparative genomic hybridization , gene , medicine , genetics , deletion syndrome , bone density , pediatrics , biology , bioinformatics , pathology , promoter , osteoporosis , gene expression , genome
This report describes three cases of 22q11.2 deletion syndrome (22q11.2DS) diagnosed by array comparative genomic hybridization with final adult...
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