Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

Objectives: Mutations in the neuroblastoma-amplified sequence (NBAS) gene were originally described in patients with skeletal dysplasia or isolated liver disease of variable severity. Subsequent publications reported a more complex phenotype. Among multisystemic clinical symptoms, we were particular...

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Detalles Bibliográficos
Autores principales: Khoreva, Anna, Pomerantseva, Ekaterina, Belova, Natalia, Povolotskaya, Inna, Konovalov, Fedor, Kaimonov, Vladimir, Gavrina, Alena, Zimin, Sergey, Pershin, Dmitrii, Davydova, Nataliia, Burlakov, Vasilii, Viktorova, Ekaterina, Roppelt, Anna, Kalinina, Ekaterina, Novichkova, Galina, Shcherbina, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522312/
https://www.ncbi.nlm.nih.gov/pubmed/33042920
http://dx.doi.org/10.3389/fped.2020.00577

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522312/
https://www.ncbi.nlm.nih.gov/pubmed/33042920
http://dx.doi.org/10.3389/fped.2020.00577

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