Mutational spectrum of NSDHL in CHILD syndrome

[...]their case had all the clinical features of X linked dominant chondrodysplasia punctata but none of the morphological criteria of CHILD syndrome. 1, 22 Hence there is so far no case report of CHILD syndrome showing a mutation outside the NSDHL locus.

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Bibliographic Details
Published in:Journal of medical genetics 2005-02, Vol.42 (2), p.e17-e17
Main Authors: Bornholdt, D, König, A, Happle, R, Leveleki, L, Bittar, M, Danarti, R, Vahlquist, A, Tilgen, W, Reinhold, U, Poiares Baptista, A, Grosshans, É, Vabres, P, Niiyama, S, Sasaoka, K, Tanaka, T, Meiss, A L, Treadwell, P A, Lambert, D, Camacho, F, Grzeschik, K-H
Format: Article
Language:English
Subjects:
3-Hydroxysteroid Dehydrogenases - genetics
Adolescent
Amino Acid Sequence
Amino acids
Biosynthesis
CHILD
Cholesterol
congenital hemidysplasia with ichthyosiform naevus and limb defects
Dehydrogenases
developmental defect
DNA Mutational Analysis
Enzymes
Female
Humans
ichthyosis
Ichthyosis - diagnosis
Ichthyosis - genetics
Limb Deformities, Congenital - diagnosis
Limb Deformities, Congenital - genetics
MAPH
measurement by amplifiable probe hybridisation
Molecular Sequence Data
Mutation
Mutation, Missense
NAD(P)H steroid dehydrogenase-like protein
Nevus - diagnosis
Nevus - genetics
NSDHL
Online Mutation Report
Point Mutation
Polymorphism, Single Nucleotide
Proteins
Sequence Alignment
Sequence Deletion
single strand conformation analysis
SSCA
Sterols
Vertebrae
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Description
Summary:[...]their case had all the clinical features of X linked dominant chondrodysplasia punctata but none of the morphological criteria of CHILD syndrome. 1, 22 Hence there is so far no case report of CHILD syndrome showing a mutation outside the NSDHL locus.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2004.024448