Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

Autor: Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Irena Wojsyk-Banaszak, Paulina Sobkowiak, Alicja Bartkowska-Śniatkowska, Valeriia Babak, Barbara Steinborn

Publikováno v: International Journal of Environmental Research and Public Health
International Journal of Environmental Research and Public Health, Vol 19, Iss 775, p 775 (2022)

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), w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ba48d2a28ff1cdf209c5c12d4a40390
http://europepmc.org/articles/PMC8776169