Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing

BACKGROUND: Syndactyly (SD) refers to a deformity caused by the fusion and limb differentiation disorder of soft tissues and/or skeletons to varying extents between adjacent fingers (toes). The main features of this disease are phenotypic heterogeneity and genetic heterogeneity. In this study, we ex...

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Detalles Bibliográficos
Autores principales: Husile, Husile, Wu, Zhifeng, Yang, Liqing, Cao, Yaning, Wu, Qizhu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9533607/
https://www.ncbi.nlm.nih.gov/pubmed/36195906
http://dx.doi.org/10.1186/s12920-022-01360-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9533607/
https://www.ncbi.nlm.nih.gov/pubmed/36195906
http://dx.doi.org/10.1186/s12920-022-01360-3

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