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Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.
Hamel CP, Meunier I, Arndt C, Ben Salah S, Lopez S, Bazalgette C, Bazalgette C, Zanlonghi X, Arnaud B, Defoort-Dellhemmes S, Puech B. Hamel CP, et al. Among authors: defoort dellhemmes s. Am J Ophthalmol. 2009 Apr;147(4):609-20. doi: 10.1016/j.ajo.2008.10.022. Epub 2009 Feb 1. Am J Ophthalmol. 2009. PMID: 19181301
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, Bessières B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I. Luscan R, et al. Among authors: defoort dellhemmes s. Am J Hum Genet. 2017 Dec 7;101(6):1006-1012. doi: 10.1016/j.ajhg.2017.10.010. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198720 Free PMC article.