An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas

Birk-Barel syndrome, alternatively known as KCNK9 imprinting syndrome, is caused by a missense mutation in the potassium two pore domain channel subfamily K member 9 (KCNK9) gene on chromosome 8q24.3. This syndrome demonstrates dominant inheritance and is imprinted with paternal silencing, where the...

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Detalles Bibliográficos
Autores principales: Ramirez-Arenalde, Michael A, Bruckman-Blanco, Wilmarie J, Frontanes-Heredia, Abymael, Santiago-Castro, Sherry L, De Jesús-Rojas, Wilfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301725/
https://www.ncbi.nlm.nih.gov/pubmed/34327088
http://dx.doi.org/10.7759/cureus.15862

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301725/
https://www.ncbi.nlm.nih.gov/pubmed/34327088
http://dx.doi.org/10.7759/cureus.15862

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