Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease

Ming Li, Ruhong Cheng, Jianying Liang et al. · The American Journal of Human Genetics · 2013 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

Sandra Mercier, Sébastien Küry, Gasnat Shaboodien et al. · The American Journal of Human Genetics · 2013 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Aberrant 3′ oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia

Christine Hilcenko, Paul J. Simpson, Andrew J. Finch et al. · Blood · 2012 · 76 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana et al. · Orphanet Journal of Rare Diseases · 2015 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?

Nonhlanhla P. Khumalo, Komala Pillay, Peter Beighton et al. · British Journal of Dermatology · 2006 · 44 citations

Medicine, Cardiology, Pathology +14