Condition: SPLIT-HAND/FOOT MALFORMATION 4
rs121908838
in
TP63
gene and
SPLIT-HAND/FOOT MALFORMATION 4
PMID 11462173
2001 p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
PMID 10839977
2000 Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.