Fibrose pulmonaire au cours de la poïkilodermie héréditaire sclérosante associée à la mutation du gène FAM111B : à propos d’un cas
Sign Up to like & getrecommendations! Published in 2018 at "Revue des Maladies Respiratoires"
DOI: 10.1016/j.rmr.2018.09.002
Abstract: Resume Introduction La poikilodermie hereditaire sclerosante avec contractures tendineuses, myopathie et atteinte interstitielle pulmonaire (POIKTMP) est une entite syndromique extremement rare, de description recente, appartenant au spectre des poikilodermies hereditaires. Elle resulte d’une mutation au… read more here.
Keywords: fibrose pulmonaire; poiktmp; cas fibrose; pulmonaire ... See more keywords
Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases
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DOI: 10.1111/exd.14537
Abstract: Mutations in the human FAM111B gene are associated with a rare, hereditary multi‐systemic fibrosing disease, POIKTMP. To date, there are ten POIKTMP‐associated FAM111B gene mutations reported in thirty‐six patients from five families globally. To investigate… read more here.
Keywords: mutations within; poiktmp; fam111b gene; protease domain ... See more keywords