ATP6AP1‐CDG: Follow‐up and female phenotype

In 2016, 11 male patients were reported with immunodeficiency and hepatic, gastric and (in some) neurological disease due to X‐linked ATP6AP1 deficiency (ATP6AP1‐CDG). In 2018, three other patients were reported with additional features: connective tissue abnormalities, sensorineural hearing loss, h...

Descripción completa

Detalles Bibliográficos
Autores principales: Lipiński, Patryk, Rokicki, Dariusz, Bogdańska, Anna, Lesiak, Justyna, Lefeber, Dirk J., Tylki‐Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203642/
https://www.ncbi.nlm.nih.gov/pubmed/32395412
http://dx.doi.org/10.1002/jmd2.12104

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203642/
https://www.ncbi.nlm.nih.gov/pubmed/32395412
http://dx.doi.org/10.1002/jmd2.12104

Ejemplares similares