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Article

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

European journal of medical genetics - 1 May 2018

Uehara Tomoko, Takenouchi Toshiki, Kosaki Rika, Kurosawa Kenji, Mizuno Seiji, Kosaki Kenjiro

Abstract excerpt

Recently, 7 patients with de novo constitutional non-synonymous mutations in the CDK13 gene were ascertained through a trio exome analysis of a large cohort of 610 patients with congenital cardiac diseases. Despite another report describing 9 additional patients, the clinical spectrum of this condition has yet to be defined. Herein, we report 3 patients with heterozygous constitutional CDK13 mutations, who were...

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Source

Identifiers

PMID: 29222009
DOI: 10.1016/j.ejmg.2017.12.004

Genes

CDK13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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