Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
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Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactylyReciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1A novel acropectoral syndrome maps to chromosome 7q36Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactylyIntriguing balancing selection on the intron 5 region of LMBR1 in human population.Acromelia-oligodontia syndrome.Genetic disorders of the skeleton: a developmental approachLong-range control of gene expression: emerging mechanisms and disruption in disease.Genetics and genomics in Brazil: a promising futureMutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.Molecular-pathogenetic classification of genetic disorders of the skeleton.Sonic hedgehog: restricted expression and limb dysmorphologies.cis-regulatory mutations are a genetic cause of human limb malformationsPleiotropic patterning response to activation of Shh signaling in the limb apical ectodermal ridgeParallel Evolution of Polydactyly Traits in Chinese and European ChickensEvolutionary history of human disease genes reveals phenotypic connections and comorbidity among genetic diseases.The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23(rd) week of a pregnancy: A very rare and unusual case far from the original geography.The molecular basis of human congenital limb malformations.Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree.Identification of spontaneous mutations within the long-range limb-specific Sonic hedgehog enhancer (ZRS) that alter Sonic hedgehog expression in the chicken limb mutants oligozeugodactyly and silkie breed.An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.The expression of preaxial polydactyly is influenced by modifying genetic elements and is not maintained by chromosomal inversion in an avian biomedical model.The Sonic hedgehog gradient in the developing limb.Developmental, genetic, and genomic insights into the evolutionary loss of limbs in snakes.Comparative genomic analysis of the false killer whale (Pseudorca crassidens) LMBR1 locus.Why study human limb malformations?Novel copy number variants and major limb reduction malformation: Report of three cases.Identification of an alternative splicing isoform of chicken Lmbr1.A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomeliaIdentification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly
P2860
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P2860
Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene.
description
2000 nî lūn-bûn
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2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年學術文章
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name
Acheiropodia is caused by a ge ...... n orthologue of the Lmbr1 gene
@nl
Acheiropodia is caused by a ge ...... orthologue of the Lmbr1 gene.
@ast
Acheiropodia is caused by a ge ...... orthologue of the Lmbr1 gene.
@en
type
label
Acheiropodia is caused by a ge ...... n orthologue of the Lmbr1 gene
@nl
Acheiropodia is caused by a ge ...... orthologue of the Lmbr1 gene.
@ast
Acheiropodia is caused by a ge ...... orthologue of the Lmbr1 gene.
@en
prefLabel
Acheiropodia is caused by a ge ...... n orthologue of the Lmbr1 gene
@nl
Acheiropodia is caused by a ge ...... orthologue of the Lmbr1 gene.
@ast
Acheiropodia is caused by a ge ...... orthologue of the Lmbr1 gene.
@en
P2093
P2860
P356
P1476
Acheiropodia is caused by a ge ...... orthologue of the Lmbr1 gene.
@en
P2093
Cavalcanti MG
Freire-Maia A
Ianakiev P
Kilpatrick MW
Tsipouras P
van Baren MJ
P2860
P356
10.1086/316955
P407
P577
2000-11-22T00:00:00Z