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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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Detalles Bibliográficos
Autores principales:	Shen, Yuqi, Si, Nuo, Liu, Zhe, Liu, Fang, Meng, Xiaolu, Zhang, Ying, Zhang, Xue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029155/ https://www.ncbi.nlm.nih.gov/pubmed/29970136 http://dx.doi.org/10.1186/s13023-018-0838-y

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