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Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.
Hum Mutat. 2017 Jan;38(1):43-47. doi: 10.1002/humu.23124. Epub 2016 Nov 23.
Hum Mutat. 2017.
PMID: 27667122
A family with Wagner syndrome with uveitis and a new versican mutation.
Rothschild PR, Brézin AP, Nedelec B, Burin des Roziers C, Ghiotti T, Orhant L, Boimard M, Valleix S.
Rothschild PR, et al. Among authors: ghiotti t.
Mol Vis. 2013 Sep 26;19:2040-9. eCollection 2013.
Mol Vis. 2013.
PMID: 24174867
Free PMC article.
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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Vasson A, Leroux C, Orhant L, Boimard M, Toussaint A, Leroy C, Commere V, Ghiotti T, Deburgrave N, Saillour Y, Atlan I, Fouveaut C, Beldjord C, Valleix S, Leturcq F, Dodé C, Bienvenu T, Chelly J, Cossée M.
Vasson A, et al. Among authors: ghiotti t.
Eur J Hum Genet. 2013 Sep;21(9):977-87. doi: 10.1038/ejhg.2012.279. Epub 2013 Jan 23.
Eur J Hum Genet. 2013.
PMID: 23340513
Free PMC article.
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De novo splice mutation in the versican gene in a family with Wagner syndrome.
Rothschild PR, Audo I, Nedelec B, Ghiotti T, Brézin AP, Monin C, Valleix S.
Rothschild PR, et al. Among authors: ghiotti t.
JAMA Ophthalmol. 2013 Jun;131(6):805-7. doi: 10.1001/jamaophthalmol.2013.681.
JAMA Ophthalmol. 2013.
PMID: 23571384
No abstract available.
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