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Article

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

American journal of medical genetics. Part A - 1 Jan 2013

Aldinger Kimberly A, Kogan Jillene, Kimonis Virginia, Fernandez Bridget, Horn Denise, Klopocki Eva, Chung Brian, Toutain Annick, Weksberg Rosanna, Millen Kathleen J, Barkovich A James, Dobyns William B

Abstract excerpt

The 22q13.3 deletion causes a neurodevelopmental syndrome, also known as Phelan-McDermid syndrome (MIM #606232), characterized by developmental delay and severe delay or absence of expressive speech. Two patients with hemizygous chromosome 22q13.3 telomeric deletion were referred to us when brain-imaging studies revealed cerebellar vermis hypoplasia (CBVH). To determine whether developmental abnormalities of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23225497
DOI: 10.1002/ajmg.a.35700
PMCID: PMC3733662

Genes

PLXNB2

Provenance

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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