Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome

INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by central alveolar hypoventilation and impaired autonomic regulation, caused by pathogenic variants of PHOX2B gene. More than 90% of patients have a polyalanine repeat mutation (PARM) in the heterozygou...

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Detalles Bibliográficos
Autores principales: Artamonova, Irina N., Zlotina, Anna M., Ismagilova, Olga R., Levko, Tatyana A., Kolbina, Natalia Yu, Bryzzhin, Aleksandr V., Smorodin, Andrey P., Borodin, Alexandr V., Mamaeva, Ekaterina A., Sukhotskaya, Anna A., Kagantsov, Ilya M., Malysheva, Daria A., Vasichkina, Elena S., Pervunina, Tatiana M., Petrova, Natalia A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9975566/
https://www.ncbi.nlm.nih.gov/pubmed/36874254
http://dx.doi.org/10.3389/fped.2022.1070303

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9975566/
https://www.ncbi.nlm.nih.gov/pubmed/36874254
http://dx.doi.org/10.3389/fped.2022.1070303

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