Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
about
Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb developmentSp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb developmentDlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Phenotypic subregions within the split-hand/foot malformation 1 locus.Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformationIdentification of differentially expressed genes in early inner ear developmentGenome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.Coding exons function as tissue-specific enhancers of nearby genesAnalysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.Clinical features and teratogenic mechanisms of congenital absence of digits.Split-hand/foot malformation - molecular cause and implications in genetic counseling.Central and ulnar cleft hands: a review of concurrent deformities in a series of 47 patients and their pathogenesis.Signaling pathways and tissue interactions in neural plate border formation.Left hand polydactyly: a case report.Recurrent Streptococcus Pneumoniae Meningitis in a Child with Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia.Functional characterization of tissue-specific enhancers in the DLX5/6 locus.A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.Wassel's Type V Polydactyly with Plain Radiographic and CT Findings.Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role ofLBX
P2860
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P2860
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
@en
Genotype-phenotype correlations in mapped split hand foot malformation
@nl
type
label
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
@en
Genotype-phenotype correlations in mapped split hand foot malformation
@nl
prefLabel
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
@en
Genotype-phenotype correlations in mapped split hand foot malformation
@nl
P356
P1476
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
@en
P2093
Alison M Elliott
Jane A Evans
P304
P356
10.1002/AJMG.A.31244
P407
P577
2006-07-01T00:00:00Z