Clinical phenotype in individuals with Birk-Landau-Perez Syndrome associated with biallelic SLC30A9 pathogenic variants | Steel DB, et al | Neurology | May 2023

Steel DB, Danti FR, Abunada M, Kamien B, Malhotra S, Topf, et al. Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants. Neurology. 2023;100(21):e2214-23.

 

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Abstract

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.

CAR T,ExomeCG,next generation sequencing