Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases
Sign Up to like & getrecommendations! Published in 2022 at "Experimental Dermatology"
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