Open AccessEarly diagnosis of CYP17A1 compound heterozygous mutations in a 46, XY child with disorders of sexual development
Author(s) -
Wison Laochareonsuk,
Somchit Jaruratanasirikul,
Wanwisa Maneechay,
Surasak Sangkhathat
Publication year - 2021
Publication title -
urological science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.155
H-Index - 8
eISSN - 1879-5234
pISSN - 1879-5226
DOI - 10.4103/uros.uros_43_20
Subject(s) - cyp17a1 , frameshift mutation , genetics , medicine , missense mutation , compound heterozygosity , mutation , exome sequencing , congenital adrenal hyperplasia , biology , gene