Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, res...

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Detalles Bibliográficos
Autores principales: Winczewska-Wiktor, Anna, Hirschfeld, Adam Sebastian, Badura-Stronka, Magdalena, Wojsyk-Banaszak, Irena, Sobkowiak, Paulina, Bartkowska-Śniatkowska, Alicja, Babak, Valeriia, Steinborn, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8776169/
https://www.ncbi.nlm.nih.gov/pubmed/35055596
http://dx.doi.org/10.3390/ijerph19020775

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8776169/
https://www.ncbi.nlm.nih.gov/pubmed/35055596
http://dx.doi.org/10.3390/ijerph19020775

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