A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement

Journal of the American Academy of Dermatology

Volumn 46, Issue 4, 2002, Pages 594-596

  König, Arne ^a   Happle, Rudolf ^a   Fink Puches, Regina ^b   Soyer, Hans Peter ^b   Bornholdt, Dorothea ^a   Engel, Hartmut ^a   Grzeschik, Karl Heinz ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF GRAZ   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN NSDHL; UNCLASSIFIED DRUG;

ARTICLE; BRAIN; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSPLASIA; FEMALE; GENE FUNCTION; GENE INACTIVATION; GENE MUTATION; GENE SEQUENCE; GENOME; HEART; HUMAN; ICHTHYOSIS; INFLAMMATION; KIDNEY; LIMB DEFECT; LUNG; LYMPHOCYTE; MALE; MISSENSE MUTATION; MORPHOLOGY; NEVUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SEX DIFFERENCE; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKED DISORDER;

EID: 0036553657     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1067/mjd.2002.113680     Document Type: Article

References (10)

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2. Liu XY, Dangel AW, Kelley RI, Zhao W, Denny P, Botcherby M,et al. The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase. Nat Genet 1999;22: 182-7.
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