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Article

Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis.

American journal of medical genetics. Part A - 1 Sept 2011

Castori Marco, Sarazani Stefano, Binni Francesco, Pezzella Francesca Romana, Cruciani Giovanni, Grammatico Paola

Abstract excerpt

Phacomatosis pigmentovascularis (PPV) is a group of sporadic skin disorders combining widespread cutaneous capillary malformations and pigmented nevi. Etiopathogenesis of the various forms of PPV is unknown, although a non-allelic twin spotting has been proposed as the most likely underlying mechanism. We report on the second instance of monozygotic twin discordance for PPV. Identical twins were observed shortly...

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PMID: 21815260
DOI: 10.1002/ajmg.a.34140

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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