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Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

1 May 1996

Abstract excerpt

Split hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and fusion of remaining digits. An autosomal dominant form of this disorder (SHFM1) has been mapped to 7q21.3-q22.1 on the basis of SHFM-associated chromosomal rearrangements. Utilizing a YAC contig across this region, we have defined a critical interval of 1.5 Mb by the analysis of six...

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Congenital limb and hand anomalies
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 8733122
DOI: 10.1093/hmg/5.5.571

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Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb developmentPMID 8733122Read ↗

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactylySemantic proximity Read ↗

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Phenotypic subregions within the split-hand/foot malformation 1 locus.Semantic proximity Read ↗

Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.Semantic proximity Read ↗

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Split-hand/foot malformation - molecular cause and implications in genetic counseling.Semantic proximity Read ↗

Novel Homozygous DLX5 and WNT10B Variants Expand the Genetic and Phenotypic Spectrum of Autosomal Recessive Split-Hand/Foot Malformations (SHFM1D and SHFM6).Semantic proximity Read ↗

Split hand foot malformation is associated with a reduced level of Dactylin gene expression.Semantic proximity Read ↗

7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetranceSemantic proximity Read ↗

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.Semantic proximity Read ↗

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 LocusSemantic proximity Read ↗

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.Semantic proximity Read ↗

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