FAM111B

Publications

Aviner R et al. Uncovering hidden layers of cell cycle regulation through integrative multi-omic analysis. PLoS Genet. 2015;11(10):e1005554. PMID:  26439921.

Goussot R et al. 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 poikiloderma. JAAD Case Rep. 2017;3(2):143-150. PMID:  28349113.

Khumalo NP et al. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? Br J Dermatol. 2006;155(5):1057-61. PMID:  17034542.

Mercier S et al. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Orphanet J Rare Dis. 2015;10:135. PMID:  26471370.

Mercier S et al. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet. 2013;93(6):1100-7. PMID:  24268661.

Küry S et al. CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP). Eur J Hum Genet. 2016 May;24(5). PMID:  26443268.

Seo A et al. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Pancreas. 2016;45(6):858-62. PMID:  26495788.

Takeichi T et al. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B. Br J Dermatol. 2017;176(2):534–6. PMID: 27406236.