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Article

Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.

Pediatrics - 1 Jun 2013

Dufendach Keith A, Giudicessi John R, Boczek Nicole J, Ackerman Michael J

Abstract excerpt

The presence of 2 distinct populations of somatic or germline cells within a single individual harboring different genotypes is termed mosaicism. Recent reports suggest that parental mosaicism is involved in the heritability of type 1 Timothy syndrome (TS1), an extremely rare and life-threatening multisystem disorder characterized by severe QT interval prolongation, syndactyly, and several other complications....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23690510
DOI: 10.1542/peds.2012-2941
PMCID: PMC3666110

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.PMID 23690510Read ↗

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