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Brachydactyly E: isolated or as a feature of a syndrome
Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD...
Autores principales: | Pereda, Arrate, Garin, Intza, Garcia-Barcina, Maria, Gener, Blanca, Beristain, Elena, Ibañez, Ane Miren, Perez de Nanclares, Guiomar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848564/ https://www.ncbi.nlm.nih.gov/pubmed/24028571 http://dx.doi.org/10.1186/1750-1172-8-141 |
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