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Article

Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.

European journal of medical genetics - 1 Oct 2018

Kiyota Kyoko, Yoshiura Koh-Ichiro, Houbara Ryoko, Miyahara Hiroaki, Korematsu Seigo, Ihara Kenji

Abstract excerpt

22q13 deletion syndrome is a genetic disorder caused by the deletion or disruption of the segment of the long arm of chromosome 22. The characteristic clinical features of this syndrome include delayed expressive speech, autistic behavior and hypotonia, and clinically severe complications associated with autoimmunity are rarely reported. We herein report a girl with 22q13 deletion syndrome complicated with...

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Identifiers

PMID: 29673649
DOI: 10.1016/j.ejmg.2018.04.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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