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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Archivio della ricer...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
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Cutaneous venous malformation due to krit1 mutation: a case report

Authors: LULLI, Patrizia; GRIPPAUDO, Francesca Romana; PIANE, Maria; L. Alesi; I. De Santis; M. Amoroso; S. Penco; +2 Authors

Cutaneous venous malformation due to krit1 mutation: a case report

Abstract

Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations (CCM) can occur sporadically or as an autosomal dominant condition, with incomplete penetrance and variable clinical expression. Occasionally, extraneural manifestations of CMs involving the skin have been described. We report the case of two sibs with cutaneous vascular lesions associated with cerebral CMs. After surgical excision, histopathological analysis demonstrated those lesions to be cavernous hemangiomas. Cerebral MRI revealed multiple images suggestive of cavernous hemangiomas in both patients, although no signs of neurological impairment were reported. The genetic study revealed in both patients a nonsense mutation (c.535C>T) in the KRIT1 gene, leading to a premature stop codon (p.R179X) and giving rise to protein truncation.

Country
Italy
Related Organizations
Keywords

KRIT1; cerebral cavernous malformations; hemangiomas

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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