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American Journal of Ophthalmology|June 1, 1996
Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS geneC B Hoyng, P Heutink, L Testers, et al.American Journal of Medical Genetics|April 24, 1999
Craniosynostosis associated with ectopia lentis in monozygotic twin sistersJ R Cruysberg, C M van Ravenswaaij-Arts, A Pinckers, et al.Human Molecular Genetics|February 1, 1994
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7pH Kremer, A Pinckers, B van den Helm, et al.American Journal of Ophthalmology|November 1, 1995
Ocular and systemic manifestations of cerebrotendinous xanthomatosisJ R Cruysberg, R A Wevers, B G van Engelen, et al.American Journal of Medical Genetics|November 20, 1995
Clinical findings in obligate carriers of type I Usher syndromeM Wagenaar, B ter Rahe, A van Aarem, et al.Nature Genetics|November 4, 2000
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat proteinC M Pusch, C Zeitz, O Brandau, et al.American Journal of Human Genetics|April 29, 1998
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneityJ Oh, L Ho, S Ala-Mello, et al.Pageof 7