A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita.

Khattab, Ahmed

A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita. [electronic resource] - Annals of the New York Academy of Sciences 12 2018 - 7-11 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1749-6632

10.1111/nyas.13962 doi


Adult
Amino Acid Sequence
Base Sequence
Biomarkers--blood
Child, Preschool
Chromosomes, Human, X--genetics
DAX-1 Orphan Nuclear Receptor--genetics
Estriol--blood
Female
Frameshift Mutation
Genetic Association Studies
Glucocorticoids--deficiency
Humans
Hypoadrenocorticism, Familial--blood
Male
Maternal-Fetal Exchange
Middle Aged
Pregnancy
Sequence Alignment