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Article

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

Nature genetics - 1 Apr 2003

O'Driscoll Mark, Ruiz-Perez Victor L, Woods C Geoffrey, Jeggo Penny A, Goodship Judith A

Abstract excerpt

Seckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and mental retardation. Clinically, Seckel syndrome shares features in common with disorders involving impaired DNA-damage responses, such as Nijmegen breakage...

Read the complete abstract on PubMed

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Share to Ataxia Telangiectasia Mutated Proteins
Share to Chromosomes, Human, Pair 3
Share to DNA Damage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dose-Response Relationship, Radiation

Share to Mitomycin

Share to Nucleic Acid Synthesis Inhibitors

Share to RNA Splicing

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Source

Identifiers

PMID: 12640452
DOI: 10.1038/ng1129

Genes

ATR
LIG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12640452-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.PMID 12640452Read ↗

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