Mutational spectrum of NSDHL in CHILD syndrome

Mutational spectrum of NSDHL in CHILD syndrome

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http://www.wikidata.org/entity/Q35447725
Recent insights into the Smith-Lemli-Opitz syndrome.Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeMalformation syndromes caused by disorders of cholesterol synthesis.Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.Identification of a novel polymorphism in X-linked sterol-4-alpha-carboxylate 3-dehydrogenase (Nsdhl) associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice.Targeting epidermal lipids for treatment of Mendelian disorders of cornification.Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.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.A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.Homology modeling and site-directed mutagenesis reveal catalytic key amino acids of 3beta-hydroxysteroid-dehydrogenase/C4-decarboxylase from Arabidopsis.CHILD syndrome with minimal limb abnormalities.Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears
P2860

Mutational spectrum of NSDHL in CHILD syndrome

Item
http://www.wikidata.org/entity/Q35447725
description
2005 nî lūn-bûn
@nan
2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutational spectrum of NSDHL in CHILD syndrome
@ast
Mutational spectrum of NSDHL in CHILD syndrome
@en
type
label
Mutational spectrum of NSDHL in CHILD syndrome
@ast
Mutational spectrum of NSDHL in CHILD syndrome
@en
prefLabel
Mutational spectrum of NSDHL in CHILD syndrome
@ast
Mutational spectrum of NSDHL in CHILD syndrome
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Mutational spectrum of NSDHL in CHILD syndrome
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932