Open AccessIdentification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency
Author(s) -
Yiping Cheng,
Chao Xu,
Jiang Yang,
Xinjie Zhou,
Nan Chen
Publication year - 2022
Publication title -
molecular medicine reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.727
H-Index - 56
eISSN - 1791-3004
pISSN - 1791-2997
DOI - 10.3892/mmr.2022.12854
Subject(s) - biology , proband , disorders of sex development , noonan syndrome , genetics , exome sequencing , mutation , endocrinology , medicine , gene