| Health / Medical Topics |
OFD1 wt Allele
Human OFD1 wild-type allele is located in the vicinity of Xp22 and is approximately 35 kb in length. This allele, which encodes oral-facial-digital syndrome 1, may be involved in the mediation of embryonic development. Mutations in the gene are associated with both oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. (NCI Thesaurus)
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