ATP6AP1‐CDG: Follow‐up and female phenotype
Abstract 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 hearin...
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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wiley
2020-05-01
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| Serier: | JIMD Reports |
| Fag: | |
| Online adgang: | https://doi.org/10.1002/jmd2.12104 |
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