Mutations in the NSDHL gene, encoding a 3?-hydroxysteroid dehydrogenase, cause CHILD syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference29 articles.
1. Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X Chromosome: implications for mapping human disorders in Xq28
2. Recommendations for a nomenclature system for human gene mutations
3. Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome
4. Refined mapping of caltractin in human Xq28 and in the homologous region of the mouse X Chromosome places the gene within the bare patches (Bpa) and striated (Str) critical regions
5. Disorders of cholesterol biosynthesis
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