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Article

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Molecular genetics & genomic medicine - 1 Oct 2020

Slezak Ryszard, Smigiel Robert, Rydzanicz Malgorzata, Pollak Agnieszka, Kosinska Joanna, Stawinski Piotr, Malgorzata Sasiadek Maria, Ploski Rafal

Abstract excerpt

BACKGROUND: The genetic etiology of intellectual and psychomotor disability without a defined spectrum of dysmorphic features is usually monogenic. As no diagnostic criteria for such diseases are established, the clinical diagnosis becomes to be a challenge. The object of our paper is to present two patients with non-specific clinical symptoms for whom whole-exome-sequencing identified the new SON mutations and...

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Source

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Identifiers

PMID: 32705777
DOI: 10.1002/mgg3.1432
PMCID: PMC7549597

Genes

SON

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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Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.PMID 32705777Read ↗

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