Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome

American Journal of Medical Genetics

Volumn 90, Issue 4, 2000, Pages 339-346

  König, Arne ^a   Happle, Rudolf ^a   Bornholdt, Dorothea ^a   Engel, Hartmut ^a   Grzeschik, Karl Heinz ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Bare patches (Bpa); CHILD syndrome; Cholesterol synthesis defects; Congenital hemidysplasia with ichthyosiform nevus and limb defects; NSDHL; Point mutations; Striated (Str); Xq28

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE;

ARTICLE; CHOLESTEROL SYNTHESIS; CHROMOSOME XQ; CLINICAL ARTICLE; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; ICHTHYOSIS; INFANT; LIMB DEFECT; MALE; POINT MUTATION; PRIORITY JOURNAL; QUANTITATIVE TRAIT;

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;

ANIMALIA;

EID: 0033972847     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5     Document Type: Article

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