Open AccessSmith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
Author(s) -
Dohwan Lee,
JaHyun Jang,
Cha Gon Lee
Publication year - 2019
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
ISSN - 2383-8442
DOI - 10.5734/jgm.2019.16.1.27
Subject(s) - macrocephaly , frontal bossing , hypertelorism , sanger sequencing , genetics , intellectual disability , germline mutation , exome sequencing , germline , megalencephaly , missense mutation , medicine , germline mosaicism , mutation , biology , anatomy , gene
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