Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

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 desc...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238160/
https://www.ncbi.nlm.nih.gov/pubmed/37041080
http://dx.doi.org/10.1212/WNL.0000000000207241

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