Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
Mohammad M Al-QattanAli HadadiAbdullah M Al-ThunayanAhmed A EldaliMohammed A Al BalwiPublished in: BMC medical genetics (2018)
Our literature review indicated that "upper limb muscle overgrowth with hypoplasia of the index finger" is not as rare as previously thought to be. This overgrowth syndrome is unique and is caused by the somatic PIK3CA mutation c.3140A>G.