TY  - GEN
AU  - Khattab,Ahmed
AU  - Nelson-Williams,Carol
AU  - Cabreza,Vivienne
AU  - Macdonald,Anne
AU  - Loring,Erin
AU  - Saland,Jeffrey
AU  - New,Maria I
TI  - A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita
SN  - 1749-6632
PY  - 2019///0813
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Biomarkers
KW  - blood
KW  - Child, Preschool
KW  - Chromosomes, Human, X
KW  - genetics
KW  - DAX-1 Orphan Nuclear Receptor
KW  - Estriol
KW  - Female
KW  - Frameshift Mutation
KW  - Genetic Association Studies
KW  - Glucocorticoids
KW  - deficiency
KW  - Humans
KW  - Hypoadrenocorticism, Familial
KW  - Male
KW  - Maternal-Fetal Exchange
KW  - Middle Aged
KW  - Pregnancy
KW  - Sequence Alignment
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/nyas.13962
ER  -