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Article

Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient.

Journal of clinical immunology - 1 Jan 2014

Simon Amos J, Lev Atar, Jeison Marta, Borochowitz Zvi U, Korn David, Lerenthal Yaniv, Somech Raz

Abstract excerpt

PURPOSE: Chromosomal instability syndromes include a group of rare diseases characterized by defective DNA-damage-response and increased risk of chromosomal breakage. Patients display defects in the recognition and/or repair of DNA damage, with a subsequent high rate of malignancies and abnormal...

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Source

Identifiers

PMID: 24197801
DOI: 10.1007/s10875-013-9957-3

Genes

SMARCAL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24197801-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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