A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
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Malformation syndromes caused by disorders of cholesterol synthesis.Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.CHILD syndrome with minimal limb abnormalities.Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.Disorders of Keratinization
P2860
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P2860
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
description
2002 nî lūn-bûn
@nan
2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A novel missense mutation of N ...... , almost symmetric involvement
@ast
A novel missense mutation of N ...... , almost symmetric involvement
@en
A novel missense mutation of N ...... , almost symmetric involvement
@nl
type
label
A novel missense mutation of N ...... , almost symmetric involvement
@ast
A novel missense mutation of N ...... , almost symmetric involvement
@en
A novel missense mutation of N ...... , almost symmetric involvement
@nl
prefLabel
A novel missense mutation of N ...... , almost symmetric involvement
@ast
A novel missense mutation of N ...... , almost symmetric involvement
@en
A novel missense mutation of N ...... , almost symmetric involvement
@nl
P2093
P356
P1476
A novel missense mutation of N ...... , almost symmetric involvement
@en
P2093
Arne König
Dorothea Bornholdt
Hans Peter Soyer
Hartmut Engel
Karl-Heinz Grzeschik
Rudolf Happle
P356
10.1067/MJD.2002.113680
P407
P577
2002-04-01T00:00:00Z