A 24-base pair duplication in exon one of HOXD13 gene linked to synpolydactyly type 1 in a Chinese family

In conclusion, variable expressivity and incomplete penetrance of HOXD13 mutation had been evident in the family and our results also widen the spectrum of HOXD13 mutation responsible for synpolydactyly type 1.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
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