A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.


Split-hand/foot malformation (SHFM) is a rare limb developmental malformation, characterized by variable degree of median clefts of hands and feet due to the absence of central rays of extremities. To date, six different forms of SHFM have been described. Four of these SHFM1, SHFM3, SHFM4 and SHFM5 show autosomal dominant, SHFM6 autosomal recessive and… (More)
DOI: 10.1111/j.1399-0004.2011.01698.x


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