Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset

Date publication

mars 2017

Journal

JAAD case reports

Auteurs

Membres identifiés du Cancéropôle Est :
Pr LIPSKER Dan

Tous les auteurs :
Goussot R, Prasad M, Stoetzel C, Lenormand C, Dollfus H, Lipsker D

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/28349113

Mots clés

FAM111B, IPMN, intraductal papillary mucinous neoplasm, POIKTMP, hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis, RTS, Rothmund-Thomson syndrome, inherited poikiloderma, pancreatic cancer

Référence

JAAD Case Rep. 2017 Mar;3(2):143-150