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Article

A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities.

BMC medical genomics - 18 Dec 2023

Cheng Chen, Yang Fan, Zhao Sheng, Chen Xinlin

Abstract excerpt

BACKGROUND: About 31 individuals with CLTC variants have been reported worldwide, and all reported individuals have motor and mental retardation. CLTC is known to lead to intellectual developmental disorder, autosomal dominant 56. Few studies are focusing on the prenatal stage of the disease. METHOD: An ultrasound examination was performed to obtain the prenatal phenotype. Whole-exome sequencing was used to find...

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Identifiers

PMID: 38111042
DOI: 10.1186/s12920-023-01778-3
PMCID: PMC10729518

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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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