Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface

The goal of this study was to perform a clinical and molecular investigation in an eight-year-old female child diagnosed with hypophosphatasia (HPP). The proband and her family were evaluated by medical and dental histories, biochemical analyses, radiographic imaging, and genetic analysis of the tis...

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Detalles Bibliográficos
Autores principales: Martins, Luciane, Lessa, Luis Gustavo F., Ali, Taccyanna M., Lazar, Monize, Kim, Chong A., Kantovitz, Kamila R., Santamaria, Mauro P., Araújo, Cássia F., Ramos, Carolina J., Foster, Brian L., Franco, José Francisco S., Bertola, Débora, Nociti, Francisco H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820760/
https://www.ncbi.nlm.nih.gov/pubmed/36613725
http://dx.doi.org/10.3390/ijms24010282

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820760/
https://www.ncbi.nlm.nih.gov/pubmed/36613725
http://dx.doi.org/10.3390/ijms24010282

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