Article
Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
BMC medical genetics - 4 Sept 2018
Al-Qattan Mohammad M, Hadadi Ali, Al-Thunayan Abdullah M, Eldali Ahmed A, AlBalwi Mohammed A
Abstract excerpt
BACKGROUND: Scientists have previously described an overgrowth syndrome in Saudi patients and named it 'Upper limb muscle overgrowth with hypoplasia of the index finger' syndrome. CASE PRESENTATION: We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg. We also recruited one of the previously reported cases and found the same somatic mutation in the...
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