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Article

A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.

American journal of medical genetics. Part A - 1 Dec 2018

Upadia Jariya, Gonzales Patrick R, Atkinson T Prescott, Schroeder Harry W, Robin Nathaniel H, Rudy Natasha L, Mikhail Fady M

Abstract excerpt

Phelan-McDermid syndrome (PMS, OMIM 606232) is a heterozygous contiguous gene microdeletion syndrome occurring at the distal region of chromosome 22q13. This deletion encompasses the SHANK3 gene at 22q13.33, which is thought to be the critical gene for the neurodevelopmental features seen in this syndrome. PMS is typically characterized by intellectual disability, autism spectrum disorder, absent to severely...

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PMID: 30216695
DOI: 10.1002/ajmg.a.40492

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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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A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.PMID 30216695Read ↗

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