A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita. [electronic resource]
Producer: 20190813Description: 7-11 p. digitalISSN:- 1749-6632
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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