A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism. [electronic resource]
Producer: 20141114Description: 343-7 p. digitalISSN:- 2191-0251
- Adrenal Hyperplasia, Congenital -- complications
- Adrenal Insufficiency
- Base Sequence
- Child
- DAX-1 Orphan Nuclear Receptor -- genetics
- DNA Primers
- Frameshift Mutation
- Genetic Diseases, X-Linked -- complications
- Humans
- Hypoadrenocorticism, Familial
- Hypogonadism -- complications
- Male
- Mutation, Missense
- Reverse Transcriptase Polymerase Chain Reaction
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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