A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

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http://www.wikidata.org/entity/Q33946418
Tibial hemimelia: new classification and reconstructive optionsParallel Evolution of Polydactyly Traits in Chinese and European ChickensAdvances in the molecular genetics of non-syndromic polydactyly.Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.The two domain hypothesis of limb prepattern and its relevance to congenital limb anomalies.Tibial hemimelia associated with GLI3 truncation.Sonic Hedgehog Signaling in Limb DevelopmentShh and ZRS enhancer colocalisation is specific to the zone of polarising activity.The Conserved Sonic Hedgehog Limb Enhancer Consists of Discrete Functional Elements that Regulate Precise Spatial ExpressionIntrafamilial variability of ZRS-associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing.Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.
P2860

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

Item
http://www.wikidata.org/entity/Q33946418
description
2014 nî lūn-bûn
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2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A novel ZRS mutation leads to ...... syndrome in a homozygous form.
@ast
A novel ZRS mutation leads to ...... syndrome in a homozygous form.
@en
type
label
A novel ZRS mutation leads to ...... syndrome in a homozygous form.
@ast
A novel ZRS mutation leads to ...... syndrome in a homozygous form.
@en
prefLabel
A novel ZRS mutation leads to ...... syndrome in a homozygous form.
@ast
A novel ZRS mutation leads to ...... syndrome in a homozygous form.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A novel ZRS mutation leads to ...... syndrome in a homozygous form.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932