Article
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
American journal of medical genetics - 14 Feb 2000
König A, Happle R, Bornholdt D, Engel H, Grzeschik K H
Abstract excerpt
We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at Xq28 (NAD(P)H steroid dehydrogenase-like protein) encoding a 3beta-hydroxysteroid dehydrogenase functioning in the...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Abnormalities, Multiple
- Amino Acid Sequence
- Base Sequence
- DNA
- Female
- Humans
- Ichthyosis, X-Linked
- Limb Deformities, Congenital
- Male
- Molecular Sequence Data
- Mutation
- Syndrome