Open AccessThree Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations
Author(s) -
Jin Hee Jang,
Jung Min Ko,
Sei Won Yang,
JongHee Chae,
Eun Jung Bae
Publication year - 2016
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
eISSN - 2233-9108
pISSN - 1226-1769
DOI - 10.5734/jgm.2016.13.2.99
Subject(s) - medicine , macrocephaly , ductus arteriosus , exome sequencing , pediatrics , genetic counseling , hypertrichosis , mutation , dermatology , genetics , gene , biology
Cantu syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis,...
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