New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disease caused by variants in the SLC34A2 gene encoding the sodium-dependent phosphate transport protein 2B, NaPi-2b. PAM is characterized by deposition of calcium phosphate crystals in the alveoli. Onset and clinical course...

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Detalles Bibliográficos
Autores principales: Jönsson, Åsa Lina M., Hilberg, Ole, Simonsen, Ulf, Christensen, Jane Hvarregaard, Bendstrup, Elisabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10230741/
https://www.ncbi.nlm.nih.gov/pubmed/37259144
http://dx.doi.org/10.1186/s13023-023-02712-7

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