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

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

Bibliographic Details
Main Authors:	Fuying Chen, Luyao Zheng, Yue Li, Huaguo Li, Zhirong Yao, Ming Li
Format:	Article
Language:	English
Published:	Society for Publication of Acta Dermato-Venereologica 2019-04-01
Series:	Acta Dermato-Venereologica
Subjects:	poikiloderma FAM111B POIKTMP
Online Access:	https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3186

Similar Items

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
by: Raphaëlle Goussot, MD, et al.
Published: (2017-03-01)

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B
by: Yelena Dokic, BSA, et al.
Published: (2020-12-01)

Poikiloderma with novel gene mutation
by: Sunanda Mahajan, et al.
Published: (2020-01-01)

comment: Poikiloderma of Civatte
by: Anca Chiriac, et al.
Published: (2013-04-01)

Poikiloderma a varied presentation - Huriez syndrome
by: Priyadarshini Kharge, et al.
Published: (2015-01-01)

Erythroderma and extensive poikiloderma – a rare initial presentation of dermatomyositis: a case report
by: H. M. M. T. B. Herath, et al.
Published: (2018-03-01)

A familial poikiloderma-like cutaneous amyloidosis
by: Mahesh Unni, et al.
Published: (2014-01-01)

Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report
by: Farhad Abolnezhadian, et al.
Published: (2019-08-01)

The Possible Role of Contact Sensitization to Fragrances and Preservatives in Poikiloderma of Civatte
by: Saranya Khunkhet, et al.
Published: (2014-11-01)

FAM111B, a direct target of p53, promotes the malignant process of lung adenocarcinoma
by: Sun H, et al.
Published: (2019-04-01)

Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs
by: Vincenzo Piccolo, et al.
Published: (2021-06-01)

Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene
by: Turkan Patiroglu, et al.
Published: (2015-10-01)

Investigating the role of a FAM111B mutation in hereditary fibrosing poikiloderma (POIKTMP) using induced pluripotent stem cell (iPSC) model
by: Gumede, Dimakatso B
Published: (2020)

Kindler syndrome: A rare case report
by: Shweta Satyanarayan Kandikatla, et al.
Published: (2021-01-01)

Fam20a is dispensable for dentinogenesis and osteogenesis
by: Li, N., et al.
Published: (2021)

Differential Regulation of Cellular FAM111B by Human Adenovirus C Type 5 E1 Oncogenes
by: Wing-Hang Ip, et al.
Published: (2021-05-01)

Kindler′s syndrome: A tale of two siblings
by: Navya Handa, et al.
Published: (2016-01-01)

Kindler syndrome with palmoplantar hyperhidrosis and blonde hair
by: Anshul Maheshwari, et al.
Published: (2015-01-01)

Report of two rare cases of Kindler's syndrome in siblings
by: Neha Chowdary Koganti, et al.
Published: (2017-07-01)

LncRNA FAM83A‐AS1 promotes lung adenocarcinoma progression by enhancing the pre‐mRNA stability of FAM83A
by: Wenyi Wang, et al.
Published: (2021-05-01)

FAM83A and FAM83B as Prognostic Biomarkers and Potential New Therapeutic Targets in NSCLC
by: Sarah Richtmann, et al.
Published: (2019-05-01)

Gestion Inmobiliaria-AR111-200701
by: Vasquez Sarmiento Claudia Marcela
Published: (2020)

Gestion Inmobiliaria-AR111-200902
by: Vasquez Sarmiento Claudia Marcela
Published: (2020)

Gestion Inmobiliaria-AR111-201001
by: Vasquez Sarmiento Claudia Marcela
Published: (2020)

Gestion Inmobiliaria-AR111-201201
by: Ipince Haaker Roberto
Published: (2020)

Gestion Inmobiliaria-AR111-201202
by: Ipince Haaker Roberto, et al.
Published: (2020)

Gestion Inmobiliaria-AR111-201301
by: Jahnsen Araoz Erik
Published: (2020)

Gestion Inmobiliaria-AR111-201302
by: Jahnsen Araoz Erik
Published: (2020)

Gestion Inmobiliaria-AR111-201401
by: Jahnsen Araoz Erik
Published: (2020)

Gestion Inmobiliaria-AR111-201402
by: Jahnsen Araoz Erik
Published: (2020)

Gestion Inmobiliaria-AR111-201501
by: Jahnsen Araoz Erik, et al.
Published: (2020)

Gestion Inmobiliaria-AR111-201502
by: Jahnsen Araoz Erik, et al.
Published: (2020)

Gestion Inmobiliaria-AR111-201600
by: Jahnsen Araoz Erik
Published: (2020)

Gestion Inmobiliaria-AR111-201601
by: Vasquez Sarmiento Claudia Marcela, et al.
Published: (2020)

Gestion Inmobiliaria-AR111-201602
by: Vasquez Sarmiento Claudia Marcela, et al.
Published: (2020)

Gestion Inmobiliaria-AR111-201700
by: Vasquez Sarmiento Claudia Marcela
Published: (2020)

Gestion Inmobiliaria-AR111-201701
by: Vasquez Sarmiento Claudia Marcela, et al.
Published: (2020)

Granulomatous slack skin presenting as diffuse poikiloderma and necrotic ulcers, with features of granulomatous vasculitis and response to oral prednisone, acitretin, and oral psoralen plus ultraviolet light therapy—A case report
by: Maria Isabel Beatriz Lim Puno, MD, DPDS, et al.
Published: (2017-07-01)

Surface Chemistry Involved in Epitaxy of Graphene on 3C-SiC(111)/Si(111)
by: Abe Shunsuke, et al.
Published: (2010-01-01)

FAM150A and FAM150B are activating ligands for anaplastic lymphoma kinase
by: Jikui Guan, et al.
Published: (2015-09-01)