Literature DB >> 30972747

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients.

E Chasseuil1, J A McGrath2, A Seo3, X Balguerie4, N Bodak, H Chasseuil1, M Denis-Musquer, A Goldenberg, R Goussot, A D Irvine, N P Khumalo, M C King3, S Küry, D Lipsker, S Mallet, B M Mayosi, A Nanda, E Puzenat, E Salort-Campana, R Sidbury, A Shimamura, S Bézieau, S Mercier, S Barbarot.   

Abstract

Entities:  

Year:  2019        PMID： 30972747     DOI： 10.1111/bjd.17996

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  1 in total

Review 1.  Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.

Authors:  Marina Macchiaiolo; Filippo M Panfili; Davide Vecchio; Fabiana Cortellessa; Michaela V Gonfiantini; Paola S Buonuomo; Andrea Pietrobattista; Paola Francalanci; Lorena Travaglini; Enrico S Bertini; Maya El Hachem; Andrea Bartuli
Journal:  Am J Med Genet A       Date:  2022-07-23       Impact factor: 2.578
  1 in total

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