Open AccessMON-512 A De Novo Frameshift Mutation of FAM111B Gene Resulting in Progressive Osseous Heteroplasia in an African American Boy: First Case Report
Author(s) -
Panadeekarn Panjawatanan,
Anna Ryabets-Lienhard,
Marwan Bakhach,
Pisit Pitukcheewat
Publication year - 2019
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/js.2019-mon-512
Subject(s) - frameshift mutation , genetics , mutation , gene , medicine , biology