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Article

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

Journal of human genetics - 1 Oct 2017

Carter Tonia C, Sicko Robert J, Kay Denise M, Browne Marilyn L, Romitti Paul A, Edmunds Zoё L, Liu Aiyi, Fan Ruzong, Druschel Charlotte M, Caggana Michele, Brody Lawrence C, Mills James L

Abstract excerpt

Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single-nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants (CNVs) in 25 SHFM cases without other birth defects from New York State (NYS), prioritized CNVs absent from population CNV...

Topics

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Chromosome Aberrations
DNA Copy Number Variations
Genetic Association Studies
Limb Deformities, Congenital
Real-Time Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Regulatory Sequences, Nucleic Acid

Reproducibility of Results

Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 28539665
DOI: 10.1038/jhg.2017.56
PMCID: PMC5612852

Genes

GRB2
SUMO2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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