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Article

Chromosomal instability at common fragile sites in Seckel syndrome.

American journal of human genetics - 1 Oct 2004

Casper Anne M, Durkin Sandra G, Arlt Martin F, Glover Thomas W

Abstract excerpt

Seckel syndrome (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation, microcephaly, mental retardation, variable chromosomal instability, and hematological disorders. To date, three loci have been linked to this syndrome, and recently, the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR) was identified as the gene mutated at the SCKL1 locus....

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Source

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Identifiers

PMID: 15309689
DOI: 10.1086/422701
PMCID: PMC1182052

Genes

ATR

Provenance

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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