Article
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.
Human molecular genetics - 1 Feb 2013
Rios Jonathan J, Paria Nandina, Burns Dennis K, Israel Bonnie A, Cornelia Reuel, Wise Carol A, Ezaki Marybeth
Abstract excerpt
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, itself, is enlarged both in circumference and in length. It is not related to neurofibromatosis (NF1), nor is it...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.