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Article

Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.

American journal of medical genetics. Part A - 1 Sept 2022

Galarreta Carolina I, Kennedy Colleen, Blair David R, Slavotinek Anne

Abstract excerpt

A pair of siblings was ascertained due to multiple congenital anomalies, including strikingly similar facial, skeletal, and ocular abnormalities. Exome sequencing of both the children and their mother revealed two novel PIK3C2A variants in the siblings, c.4381delC (p.Arg1461Glufs*31) and c.1555C > T (p.Arg519Ter). PIK3C2A belongs to the Class IIa family of Phosphatidylinositol-3-kinases, which create second...

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Identifiers

PMID: 35770347
DOI: 10.1002/ajmg.a.62881

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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