Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.
about
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesisStructural basis for human NADPH-cytochrome P450 oxidoreductase deficiencyEffects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitroEvidence for digenic inheritance in some cases of Antley-Bixler syndrome?Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect.Picture of the month. Antley-Bixler syndromeMedical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.Malformation syndromes caused by disorders of cholesterol synthesis.Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations.Conditional deletion of cytochrome p450 reductase in osteoprogenitor cells affects long bone and skull development in mice recapitulating antley-bixler syndrome: role of a redox enzyme in development.Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndromeAltered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro systemPrenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology.A case of antley-bixler syndrome.Nomenclature for alleles of the cytochrome P450 oxidoreductase gene.Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child.Shprintzen-Goldberg syndrome: a rare disorder.Antley-Bixler syndrome: surgical management of ambiguous genitalia - a case report.Use of the term "Antley-Bixler syndrome": minimizing confusion.Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase.Cytochrome b5 plays a dual role in the reaction cycle of cytochrome P450 3A4 during oxidation of the anticancer drug ellipticine.Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.“Antley-Bixler Syndrome”—A Reply to Cragun and Hopkin.
P2860
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P2860
Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.
description
1975 nî lūn-bûn
@nan
1975 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1975 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1975年の論文
@ja
1975年論文
@yue
1975年論文
@zh-hant
1975年論文
@zh-hk
1975年論文
@zh-mo
1975年論文
@zh-tw
1975年论文
@wuu
name
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@ast
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@en
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@nl
type
label
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@ast
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@en
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@nl
prefLabel
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@ast
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@en
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@nl
P1476
Trapezoidocephaly, midfacial h ...... stoses and skeletal fractures.
@en
P2093
P304
P577
1975-01-01T00:00:00Z