Overview

Macrocephaly-Capillary Malformation (M-CM) is a multiple malformation syndrome causing body and head overgrowth and abnormalities of the skin, vascular system, brain, and limbs. The disorder has recently (June 2012) been attributed to a genetic mutation in a gene called PIK3CA. The mutation in M-CM is thought to always occur after cell division begins and is therefore very unlikely to be inherited. A mutation that happens at this stage results in different percentages of cells being affected in different individuals, so there is significant variability in how severely each individual is affected. To learn more visit www.m-cm.net or www.lukeandlivvy.webs.com

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9781514726112

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