SHFM1Split-Hand/Foot Malformation 1
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Izole olgular en sik azalmis penetransli otozomal dominant kalitilan SHFM1 tipidir.
Charecterization of split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
Split hand/split foot malformation with hearing loss: first report of families linked to SHFM1 locus in 7q21.
For HDAC9, which includes the SNPs rs11764843 and rs17413103 in the SHFM1 region, the conditional analysis was performed as follows: rs11764843 was conditional on rs17413103 under a fixed-effects model, which resulted in a P = 2.62 x [10.sup.-5] for the lumbar spine.
Using the GEFOS dataset (release, 2012) for in silico validation, the SNPs of the SLIT3 and HDAC and those near to SHFM1 genes did not achieve signals of association with BMD phenotypes.
Although there are no published data concerning the function of the SHFM1 gene in bone metabolism, the rs17413103 SNP in this gene, which was associated with FN BMD in our discovery sample, is located ~200 kb upstream of the rs10429035 SNP on the C7orf76 gene.