Article
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
Orphanet journal of rare diseases - 3 Jul 2018
Shen Yuqi, Si Nuo, Liu Zhe, Liu Fang, Meng Xiaolu, Zhang Ying, Zhang Xue
Abstract excerpt
BACKGROUND: Split hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation with variable expressivity. SHFM with tibia or femur aplasia is called SHFM with long bone deficiency (SHFLD). 17p13.3 duplications containing BHLHA9 are associated with SHFLD. Cases with variable SHFLD phenotype and different 17p13.3 duplicated regions are reported. The severity of long bone defect could not be...
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