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

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 dupli...

Source: Orphanet Journal of Rare Diseases - July 3, 2018 Category: Internal Medicine Authors: Yuqi Shen, Nuo Si, Zhe Liu, Fang Liu, Xiaolu Meng, Ying Zhang and Xue Zhang Tags: Research Source Type: research