Open AccessBohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby
Author(s) -
Dongbo Wang,
Xin Yuan,
Haichun Guo,
Shuyuan Yan,
Guohong Wang,
Yanling Wang,
Tuanmei Wang,
Jiang He,
Xiangwen Peng
Publication year - 2022
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000028759
Subject(s) - medicine , frameshift mutation , drooling , motor skill , physical medicine and rehabilitation , corpus callosum , mutation , genetics , surgery , anatomy , gene , psychiatry , biology