Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb, typically within a ‘nerve territory’. The classic terminology for this condition is ‘lipofibromatous hamartoma of nerve’ or Type I macrodactyly. The peripheral nerve,...

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Bibliografiske detaljer
Main Authors: Rios, Jonathan J., Paria, Nandina, Burns, Dennis K., Israel, Bonnie A., Cornelia, Reuel, Wise, Carol A., Ezaki, Marybeth
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2013
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542862/
https://ncbi.nlm.nih.gov/pubmed/23100325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds440
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