Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
about
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasiaWnt modulators in the biotech pipelineWnt/beta-catenin signaling: components, mechanisms, and diseasesDeletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylyWNT signaling in bone homeostasis and disease: from human mutations to treatmentsGenetic evidence that SOST inhibits WNT signaling in the limbWnt7a Inhibits IL-1β Induced Catabolic Gene Expression and Prevents Articular Cartilage Damage in Experimental OsteoarthritisElucidating the genetic basis of an oligogenic birth defect using whole genome sequence data in a non-model organism, Bubalus bubalis.Variation in WNT7A is unlikely to be a cause of familial congenital talipes equinovarus.Controlling destiny through chemistry: small-molecule regulators of cell fate.PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Radial aplasia with oligodactyly.Disulfide bond requirements for active Wnt ligands.Wnt signaling and the control of human stem cell fate.Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy.Review of literature: genes related to postaxial polydactyly.GPR124 functions as a WNT7-specific coactivator of canonical β-catenin signaling.A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report.Wnt and the Wnt signaling pathway in bone development and disease.WNT pathways and upper limb anomalies.A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.FATCO Syndrome Variant - Fibular Hypoplasia, Tibial Campomelia and Oligosyndactyly -- A Case Report.How rare bone diseases have informed our knowledge of complex diseases.The role of stromal cells in inflammatory bone loss.Wnt signaling, a novel pathway regulating blood pressure? State of the art review.Molecular genetics and targeted therapy of WNT-related human diseases (Review).Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies.Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.Towards embryonic-like scaffolds for skin tissue engineering: identification of effector molecules and construction of scaffolds.Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant.Classification of dorsal and ventral dimelia in humans.Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology.Santos syndrome is caused by mutation in the WNT7A gene.Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.Etiologies of uterine malformations.Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.
P2860
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P2860
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
description
2006 nî lūn-bûn
@nan
2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@ast
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@en
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@en-gb
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@nl
type
label
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@ast
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@en
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@en-gb
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@nl
prefLabel
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@ast
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@en
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@en-gb
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@nl
P2093
P2860
P50
P921
P356
P1476
Mutations in WNT7A cause a ran ...... d/Schinzel phocomelia syndrome
@en
P2093
E Sherridan
K Springell
L Al-Gazali
P2860
P356
10.1086/506332
P407
P577
2006-08-01T00:00:00Z