title: CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).
authors.affiliation: CHU Nantes, Service de Génétique Médicale, Nantes CEDEX 1, France.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Küry
authors.affiliation: CHU Nantes, Service de Génétique Médicale, Nantes CEDEX 1, France.|CHU Nantes, Service de Génétique Médicale, Unité de Génétique Clinique, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'interrégion Grand-Ouest, Nantes CEDEX 1, France.|INSERM UMR1089, Atlantic Gene Therapy Institute, University of Nantes, Nantes, France.
authors.forename: Sandra
authors.initials: S
authors.lastname: Mercier
authors.affiliation: Department of Medicine, Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa.
authors.forename: Gasnat
authors.initials: G
authors.lastname: Shaboodien
authors.affiliation: CHU Nantes, Service de Génétique Médicale, Nantes CEDEX 1, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Besnard
authors.affiliation: CHU Nantes, Clinique dermatologique, Hôtel Dieu, Place Alexis Ricordeau, Nantes, France.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Barbarot
authors.affiliation: Department of Medicine, Division of Dermatology, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa.
authors.forename: Nonhlanhla P
authors.initials: NP
authors.lastname: Khumalo
authors.affiliation: Department of Medicine, Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research in Africa, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa.
authors.forename: Bongani M
authors.initials: BM
authors.lastname: Mayosi
authors.affiliation: CHU Nantes, Service de Génétique Médicale, Nantes CEDEX 1, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Bézieau
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009135:Muscular Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D011658:Pulmonary Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D012598:Sclerosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D012868:Skin Abnormalities / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D013577:Syndrome
chemical_list: D018797:Cell Cycle Proteins; C586301:FAM111B protein, human