Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report

Background and Objectives: The pathogenic variants of SLC9A6 are a known cause of a rare, X-linked neurological disorder called Christianson syndrome (CS). The main characteristics of CS are developmental delay, intellectual disability, and neurological findings. This study investigated the genetic...

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Detalles Bibliográficos
Autores principales: Petraitytė, Gunda, Mikštienė, Violeta, Siavrienė, Evelina, Cimbalistienė, Loreta, Maldžienė, Živilė, Rančelis, Tautvydas, Vaitėnienė, Evelina Marija, Ambrozaitytė, Laima, Dapkūnas, Justas, Dzindzalieta, Ramūnas, Pranckevičienė, Erinija, Kučinskas, Vaidutis, Utkus, Algirdas, Preikšaitienė, Eglė
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949093/
https://www.ncbi.nlm.nih.gov/pubmed/35334527
http://dx.doi.org/10.3390/medicina58030351

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