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Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1
Isolated brachydactyly is an umbrella term describing disproportionally shortened fingers and toes, often following an autosomal dominant mode of inheritance. Various forms of brachydactyly have been characterized and several causative genes have been found, but many types remain genetically undefin...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295682/ https://www.ncbi.nlm.nih.gov/pubmed/30574312 http://dx.doi.org/10.1177/2050313X18818711 |