Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.
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Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 yearsMultiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.Are copy number variants associated with adolescent idiopathic scoliosis?Genetics of clubfoot.TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertensioncis-regulatory mutations are a genetic cause of human limb malformationsPitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersCopy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.Genetic basis of hindlimb loss in a naturally occurring vertebrate model.Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation MechanismDeletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.Heritability of clubfoot: a twin study.Update on clubfoot.Soft-Tissue Abnormalities Associated with Treatment-Resistant and Treatment-Responsive Clubfoot: Findings of MRI Analysis.17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse.Genome-wide association study identifies new disease loci for isolated clubfoot.Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?The etiology of idiopathic congenital talipes equinovarus: a systematic review
P2860
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P2860
Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Familial isolated clubfoot is ...... oduplications containing TBX4.
@ast
Familial isolated clubfoot is ...... oduplications containing TBX4.
@en
type
label
Familial isolated clubfoot is ...... oduplications containing TBX4.
@ast
Familial isolated clubfoot is ...... oduplications containing TBX4.
@en
prefLabel
Familial isolated clubfoot is ...... oduplications containing TBX4.
@ast
Familial isolated clubfoot is ...... oduplications containing TBX4.
@en
P2093
P2860
P1476
Familial isolated clubfoot is ...... oduplications containing TBX4.
@en
P2093
Christina A Gurnett
David M Alvarado
Hyuliya Aferol
Janet Cady
Jason B Huang
Jillian Buchan
Kevin McCall
Matthew B Dobbs
Matthew Techy
Patrick R Gonzales
P2860
P304
P356
10.1016/J.AJHG.2010.06.010
P407
P577
2010-07-01T00:00:00Z