Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
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BrachydactylyLoss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signalingMutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndromeMutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese familiesDominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathiesDistinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutationsUsing bioinformatics to predict the functional impact of SNVsDeletion and point mutations of PTHLH cause brachydactyly type E.Differential expression of Homeobox C11 protein in water buffalo Bubalus bubalis and its putative 3D structure.Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.Radiographic characteristics of the hand and cervical spine in fibrodysplasia ossificans progressivaIdentification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).Advances in the Molecular Genetics of Non-syndromic Syndactyly.A misplaced lncRNA causes brachydactyly in humans.HOX genes: seductive science, mysterious mechanisms.A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.Molecular basis for skeletal variation: insights from developmental genetic studies in mice.Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.Brachy-syndactyly caused by loss of Sfrp2 functionBrachydactyly E: isolated or as a feature of a syndromeThe Homeodomain Resource: a comprehensive collection of sequence, structure, interaction, genomic and functional information on the homeodomain protein family.Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal.Embryology of familial (non-syndromic) brachydactyly of the hand.Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.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.Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.Das 2q37-Deletionssyndrom
P2860
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P2860
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
description
2003 nî lūn-bûn
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2003 թուականի Մարտին հրատարակուած գիտական յօդուած
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2003 թվականի մարտին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
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name
Missense mutations in the home ...... h brachydactyly types D and E.
@ast
Missense mutations in the home ...... h brachydactyly types D and E.
@en
type
label
Missense mutations in the home ...... h brachydactyly types D and E.
@ast
Missense mutations in the home ...... h brachydactyly types D and E.
@en
prefLabel
Missense mutations in the home ...... h brachydactyly types D and E.
@ast
Missense mutations in the home ...... h brachydactyly types D and E.
@en
P2093
P2860
P50
P356
P1476
Missense mutations in the home ...... th brachydactyly types D and E
@en
P2093
David Johnson
Michael Oldridge
Robert M Esnouf
Shih-Hsin Kan
P2860
P304
P356
10.1086/374721
P407
P577
2003-03-14T00:00:00Z