Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features

OBJECTIVES: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3. METHODS: This is a retrospective chart review of 7 patients who was diagnosed with ATP1A3 mutation based on whole exome sequencing (WES) result and the following information were collected; age, age...

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Detalles Bibliográficos
Autores principales: Alyamani, Suad A., Aldhalaan, Hesham M., Almuhaizea, Mohammed A., Abukhalid, Musaad F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2023
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10519661/
https://www.ncbi.nlm.nih.gov/pubmed/37482377
http://dx.doi.org/10.17712/nsj.2023.3.20220131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10519661/
https://www.ncbi.nlm.nih.gov/pubmed/37482377
http://dx.doi.org/10.17712/nsj.2023.3.20220131

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