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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...

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Autores principales: Pereda, Arrate, Garin, Intza, Garcia-Barcina, Maria, Gener, Blanca, Beristain, Elena, Ibañez, Ane Miren, Perez de Nanclares, Guiomar
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3848564/
https://ncbi.nlm.nih.gov/pubmed/24028571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-141
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