TY  - GEN
AU  - Wang,Chun Lin
AU  - Fen,Zhu Wei
AU  - Liang,Li
TI  - A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism
SN  - 2191-0251
PY  - 2014///1114
KW  - Adrenal Hyperplasia, Congenital
KW  - complications
KW  - Adrenal Insufficiency
KW  - Base Sequence
KW  - Child
KW  - DAX-1 Orphan Nuclear Receptor
KW  - genetics
KW  - DNA Primers
KW  - Frameshift Mutation
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Hypoadrenocorticism, Familial
KW  - Hypogonadism
KW  - Male
KW  - Mutation, Missense
KW  - Reverse Transcriptase Polymerase Chain Reaction
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1515/jpem-2013-0260
ER  -