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Article

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene.

Clinical genetics - 1 Feb 2021

Backers Lynn, Parton Bram, De Bruyne Marieke, Tavernier Simon J, Van Den Bogaert Kris, Lambrecht Bart N, Haerynck Filomeen, Claes Kathleen B M

Abstract excerpt

Pathogenic biallelic variants in the BLM/RECQL3 gene cause a rare autosomal recessive disorder called Bloom syndrome (BS). This syndrome is characterized by severe growth delay, immunodeficiency, dermatological manifestations and a predisposition to a wide variety of cancers, often multiple and very early in life. Literature shows that the main mode of BLM inactivation is protein translation termination. We...

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Identifiers

PMID: 33073370
DOI: 10.1111/cge.13859

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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