Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
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Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4.
Orphanet J Rare Dis. 2015.
PMID: 26471370
Free PMC article.