The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
about
Innovative Target Therapies Are Able to Block the Inflammation Associated with Dysfunction of the Cholesterol Biosynthesis PathwayMalformation syndromes due to inborn errors of cholesterol synthesisCHILD + ILVEN = PEN or PENCIL.Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeMalformation syndromes caused by disorders of cholesterol synthesis.CHILD syndrome. Phenotypic dichotomy in eicosanoid metabolism and proliferative rates among cultured dermal fibroblasts.Smith-Lemli-Opitz syndrome and the DHCR7 gene.Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.Targeting epidermal lipids for treatment of Mendelian disorders of cornification.Malignant skin tumours in patients with inherited ichthyosis.Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.Genodermatoses caused by genetic mosaicism.A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.Common genodermatoses.Child naevus is not ILVEN.Five Fanconi anemia patients with unusual organ pathologies.CHILD syndrome: analysis of abnormal keratinization and ultrastructure.Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.Isolated lower limb phocomelia - a rare limb malformation.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.Squamous cell carcinoma arising in CHILD syndrome.Epidermal nevus syndromes: New insights into whorls and swirls.Abnormal lamellar granules in a case of CHILD syndrome.CHILD syndrome with minimal limb abnormalities.Verruciform xanthoma or xanthomatous transformation of inflammatory epidermal nevus?Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.Pathogenesis-based therapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simvastatin monotherapy.Update on Genetic Conditions Affecting the Skin and the Kidneys.Inherited disorders of cholesterol biosynthesisDisorders of Keratinization
P2860
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P2860
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
description
1980 nî lūn-bûn
@nan
1980 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1980 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1980年の論文
@ja
1980年論文
@yue
1980年論文
@zh-hant
1980年論文
@zh-hk
1980年論文
@zh-mo
1980年論文
@zh-tw
1980年论文
@wuu
name
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@ast
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@en
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@nl
type
label
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@ast
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@en
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@nl
prefLabel
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@ast
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@en
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@nl
P2093
P356
P1476
The CHILD syndrome. Congenital ...... erythroderma and limb defects.
@en
P2093
P2888
P356
10.1007/BF00442399
P577
1980-06-01T00:00:00Z
P5875
P6179
1006941700