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Article

The germline p53 activation syndrome: A new patient further refines the clinical phenotype.

American journal of medical genetics. Part A - 1 Jul 2022

Kumar Runjun D, Tosur Mustafa, Lalani Seema R, Mahoney Donald H, Bertuch Alison A

Abstract excerpt

The tumor suppressor p53 has well known roles in cancer development and germline cancer predisposition disorders, but increasing evidence supports the role of activation of this transcription factor in the pathogenesis of inherited bone marrow failure and chromosomal instability disorders. Here we report a patient with red cell aplasia, which was steroid responsive, as well as intellectual disability, seizures,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 35362179
DOI: 10.1002/ajmg.a.62749

Provenance

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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