Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome
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BrachydactylyVACTERL/VATER AssociationMutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese familiesDistinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutationsSynpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.Syndactyly: phenotypes, genetics and current classificationWhole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.Vertebrate skeletogenesisA nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.Advances in the Molecular Genetics of Non-syndromic Syndactyly.The epidemiology, genetics and future management of syndactyly.Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasiaSonic Hedgehog Signaling and VACTERL Association.Mitochondrial Factors and VACTERL Association-Related Congenital MalformationsBrachydactyly E: isolated or as a feature of a syndromeEmbryology of familial (non-syndromic) brachydactyly of the hand.Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.Genetic Overview of Syndactyly and Polydactyly.Spatio-temporal expression of HOX genes in human hindgut development.Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformationIsolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.Efficient generation of mouse models of human diseases via ABE- and BE-mediated base editing.Missense-Mutationen in Transkriptionsfaktoren
P2860
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P2860
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome
description
2007 nî lūn-bûn
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2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@ast
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@en
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@nl
type
label
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@ast
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@en
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@nl
prefLabel
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@ast
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@en
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@nl
P2093
P2860
P50
P356
P1476
Mutations in HOXD13 underlie s ...... chydactyly-syndactyly syndrome
@en
P2093
Guoyang Liu
Hongwen Zhu
Wilson H Y Lo
Xiangnian Shan
Xiuli Zhao
P2860
P304
P356
10.1086/511387
P407
P577
2007-02-01T00:00:00Z