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A Genotype–phenotype Correlation in Split-Hand/foot Malformation Type 1: Further Refinement of the Phenotypic Subregions Within the 7q21.3 Locus

Frontiers in molecular biosciences(2023)

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Key words
split-hand/foot malformation type 1,ectrodactyly,7q21.3,DLX5/6,structural variants,SYT1,Baker-Gordon syndrome,whole-genome sequencing
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