Article
Nail-patella syndrome and its association with glaucoma: a review of eight families.
The British journal of ophthalmology - 1 Dec 2006
Mimiwati Z, Mackey D A, Craig J E, Mackinnon J R, Rait J L, Liebelt J E, Ayala-Lugo R, Vollrath D, Richards J E
Abstract excerpt
BACKGROUND: Nail-patella syndrome (NPS) is a rare autosomal dominant syndrome, characterised by dysplasia of the nails, patellae, elbows and iliac horns. Mutations in the LMX1B gene were found in four North American families in whom glaucoma cosegregated with NPS. AIMS: To investigate the association of glaucoma with NPS in Australian families and to determine how common NPS is in Australia. METHODS: One family...
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