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Article

Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

European journal of human genetics : EJHG - 1 Sept 2003

Splendore Alessandra, Jabs Ethylin Wang, Félix Têmis Maria, Passos-Bueno Maria Rita

Abstract excerpt

In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without...

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PMID: 12939661
DOI: 10.1038/sj.ejhg.5201029

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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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