Title: | Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis |
Journal : | American journal of human genetics, 93, 6 |
Authors: | Mercier S, Author ; Kury S ; Shaboodien G ; Houniet DT ; Khumalo NP ; Bou-Hanna C ; Bodak N ; Cormier-Daire V ; David A ; Faivre L ; Figarella-Branger D ; Gherardi RK ; Glen E ; Hamel A ; Laboisse C ; Le Caignec C ; Lindenbaum P ; Magot A ; Munnich A ; Mussini JM ; Pillay K ; Rahman T ; Redon R ; Salort-Campana E ; Santibanez-Koref M ; Thauvin C ; Barbarot S ; Keavney B ; Bézieau S ; Mayosi BM |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p 1100 |
Languages: | English |
Abstract: |
Comment in:
[Hereditary fibrosing poikiloderma with contractures, myopathy and pulmonary fibrosis: The role of mutations in FAM111B]. [Ann Dermatol Venereol. 2014] |
Pubmed / DOI : | DOI : 10.1016/j.ajhg.2013.10.013 / Pubmed : 24268661 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24268661 |