Open AccessA frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
Author(s) -
JinMo Park,
Yun Jeong Lee,
JinSung Park
Publication year - 2018
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
eISSN - 2233-9108
pISSN - 1226-1769
DOI - 10.5734/jgm.2018.15.2.97
Subject(s) - brachydactyly , frameshift mutation , craniofacial , genetics , omim : online mendelian inheritance in man , medicine , short stature , mutation , exon , phenotype , gene , biology
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