Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations-Reference-Cited by-同舟云学术

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

Published:2015-10-15 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Mercier Sandra,Küry Sébastien,Salort-Campana Emmanuelle,Magot Armelle,Agbim Uchenna,Besnard Thomas,Bodak Nathalie,Bou-Hanna Chantal,Bréhéret Flora,Brunelle Perrine,Caillon Florence,Chabrol Brigitte,Cormier-Daire Valérie,David Albert,Eymard Bruno,Faivre Laurence,Figarella-Branger Dominique,Fleurence Emmanuelle,Ganapathi Mythily,Gherardi Romain,Goldenberg Alice,Hamel Antoine,Igual Jeanine,Irvine Alan D.,Israël-Biet Dominique,Kannengiesser Caroline,Laboisse Christian,Le Caignec Cédric,Mahé Jean-Yves,Mallet Stéphanie,MacGowan Stuart,McAleer Maeve A.,McLean Irwin,Méni Cécile,Munnich Arnold,Mussini Jean-Marie,Nagy Peter L.,Odel Jeffrey,O’Regan Grainne M.,Péréon Yann,Perrier Julie,Piard Juliette,Puzenat Eve,Sampson Jacinda B.,Smith Frances,Soufir Nadem,Tanji Kurenai,Thauvin Christel,Ulane Christina,Watson Rosemarie M.,Khumalo Nonhlanhla P.,Mayosi Bongani M.,Barbarot Sébastien,Bézieau Stéphane

Funder

Wellcome Trust Strategic Award

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0352-4

Reference19 articles.

1. Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis. 2010;5:2.

2. Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, et al. Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol. 2004;140(8):939–44.

3. Weary PE, Hsu YT, Richardson DR, Caravati CM, Wood BT. Hereditary sclerosing poikiloderma. Report of two families with an unusual and distinctive genodermatosis. Arch Dermatol. 1969;100(4):413–22.