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Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
BACKGROUND: Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isolated trait or as part of a syndrome. Isolated BDE is rare and in the majority o...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278352/ https://www.ncbi.nlm.nih.gov/pubmed/22233338 http://dx.doi.org/10.1186/1471-2350-13-4 |