Open Access
| Issue |
Cah. Myol.
Number 13, Juin 2016
|
|
|---|---|---|
| Page(s) | 12 - 14 | |
| Section | Cas clinique / Case report | |
| DOI | https://doi.org/10.1051/myolog/201613004 | |
| Published online | 11 juillet 2016 | |
- Khumalo NP, Pillay K, Beighton P, et al. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?. Br J Dermatol 2006 ; 155 : 1057–1061. [CrossRef] [PubMed] [Google Scholar]
- Mercier S, Küry S, Shaboodien G, et al. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet 2013 ; 93 : 1100–1107. [CrossRef] [PubMed] [Google Scholar]
- Mercier S, Küry S, Salort-Campana E, et al. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy, pulmonary fibrosis due to FAM111B mutations. Orphanet J Rare Dis 2015 ; 10 : 135. [CrossRef] [PubMed] [Google Scholar]
- Seo A, Walsh T, Lee M, et al. FAM111B mutation is associated with inherited exocrine pancreatic dysfunction. Pancreas 2015 ; Oct 22. doi : 10.1097/MPA.0000000000000529. [Google Scholar]
- Aviner R, Shenoy A, Elroy-Stein O, Geiger T.. Uncovering hidden layers of cell cycle regulation through integrative multi-omic analysis. PLoS Genet 2015 ; 11 : e1005554. [CrossRef] [PubMed] [Google Scholar]
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