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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B. Pennamen P, et al. Among authors: coste v. Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565547 Free PMC article.
[Retinal astrocytoma in tuberous sclerosis: SD-OCT findings].
Coste V, Paya C, Léoni-Mesplié S, Pechméja J, Smadja D, Delyfer MN, Korobelnik JF. Coste V, et al. J Fr Ophtalmol. 2014 Oct;37(8):665-6. doi: 10.1016/j.jfo.2014.03.006. Epub 2014 Aug 29. J Fr Ophtalmol. 2014. PMID: 25169147 French. No abstract available.
[Bilateral serous retinal detachment as a complication of preeclampsia].
Cornut T, Coste V, Paya C, Dutheil C, Gatoussi S, Seguy C, Korobelnik JF. Cornut T, et al. Among authors: coste v. J Fr Ophtalmol. 2017 Apr;40(4):346-347. doi: 10.1016/j.jfo.2016.11.016. Epub 2017 Mar 27. J Fr Ophtalmol. 2017. PMID: 28359624 French. No abstract available.
62 results