Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
about
1p36 deletion syndrome: an updateExpansion of phenotype and genotypic data in CRB2-related syndromeNovel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.DLX4 is associated with orofacial clefting and abnormal jaw development.Enzymology of retinoic acid biosynthesis and degradation.Expression of the retinoic acid catabolic enzyme CYP26B1 in the human brain to maintain signaling homeostasisRetinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.Microsomal cytochrome P450 as a target for drug discovery and repurposing.Retinoic Acid Synthesis and Degradation.Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.Defective CYP26C1 does not 4-hydroxylate 9cRASetleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
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P2860
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@ast
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@en
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@nl
type
label
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@ast
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@en
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@nl
prefLabel
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@ast
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@en
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@nl
P2093
P2860
P50
P356
P1476
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
@en
P2093
Ann L Marqueling
Anne M Slavotinek
Catherine Chu
Chris Chou
Don Cameron
Irina Nazarenko
Koen Devriendt
Mani Yahyavi
Marie-Anne Morren
P2860
P304
P356
10.1093/HMG/DDS477
P577
2012-11-16T00:00:00Z