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...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Shen, Yuqi, Si, Nuo, Liu, Zhe, Liu, Fang, Meng, Xiaolu, Zhang, Ying, Zhang, Xue
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha: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
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