Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare genetic multisystemic fibrosing disorderdisease caused by heterozygous mutations in the FAM111B gene. To date, its molecular pathogenesis remains poorly defined. The FAM111B gene encode...
ORGANISM(S): Homo sapiens (Human)