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

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...

Full description

Saved in:
Bibliographic Details
Published in:Orphanet J Rare Dis
Main Authors: Shen, Yuqi, Si, Nuo, Liu, Zhe, Liu, Fang, Meng, Xiaolu, Zhang, Ying, Zhang, Xue
Format: Artigo
Language:Inglês
Published: BioMed Central 2018
Subjects:
Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6029155/
https://ncbi.nlm.nih.gov/pubmed/29970136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0838-y
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items