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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| 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 |