Article
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Neurology - 23 May 2023
Steel Dora Batia Dyne, Danti Federica Rachele, Abunada Mohamed, Kamien Benjamin, Malhotra Sony, Topf Maya, Kaliakatsos Marios, Valentine Jane, Nemeth Andrea Hilary, Jayawant Sandeep, Reid Kimberley M, Mankad Kshitij, Sudhakar Sniya, Ben-Pazi Hilla, Barwick Katy, Kurian Manju A
Abstract excerpt
BACKGROUND AND OBJECTIVES: Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease. METHOD:...
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