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Article

Further delineation of SET-related intellectual disability syndrome.

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

Shono Kenta, Enomoto Yumi, Tsurusaki Yoshinori, Kumaki Tatsuro, Masuno Mitsuo, Kurosawa Kenji

Abstract excerpt

A loss-of-function mutation of SET causes nonsyndromic intellectual disability, often associated with mild facial dysmorphic features, including plagiocephaly, facial asymmetry, broad and high forehead, a wide mouth, and a prominent mandible. We report a male individual with a 2.0 Mb deletion within 9q34.11, involving SET and SPTAN1, but not STXBP1. Among the genes with a high probability of being...

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Source

Identifiers

PMID: 35122673
DOI: 10.1002/ajmg.a.62681

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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