Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.
作者信息
Low Karen J, Buxton Chris C, Newbury-Ecob Ruth A
机构信息
aClinical Genetics, St Michaels Hospital, Bristol bBristol Genetics Laboratory Pathology Sciences, Southmead Hospital Bristol, UK.
出版信息
Clin Dysmorphol. 2015 Jul;24(3):113-4. doi: 10.1097/MCD.0000000000000069.
PMID:25503807
Abstract
摘要
Zotero 插件