Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg→Trp gene mutation

Paola Francalanci, Filippo M. Santorelli, Ilaria Talini, Renata Boldrini, Rita Devito, Francesca Diomedi Camassei, Giuseppe Maggiore, Francesco Callea

Research output: Contribution to journalArticlepeer-review

Abstract

We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.

Original languageEnglish
Pages (from-to)396-398
Number of pages3
JournalJournal of Pediatrics
Volume148
Issue number3
DOIs
Publication statusPublished - Mar 2006

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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