TY  - GEN
AU  - Bertalan,Rita
AU  - Admoni,Osnat
AU  - Bashamboo,Anu
AU  - Tenenbaum-Rakover,Yardena
AU  - McElreavey,Kenneth
TI  - A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing
SN  - 1365-2265
PY  - 2019///0617
KW  - 17-Hydroxysteroid Dehydrogenases
KW  - deficiency
KW  - Child
KW  - Consanguinity
KW  - Gonadal Dysgenesis, 46,XY
KW  - enzymology
KW  - Humans
KW  - Male
KW  - Mutation, Missense
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1111/cen.13396
ER  -