Llwytho...

Bone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation

Mutations in FGF23, KL, and GALNT3 have been identified as the cause for the development of hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC typically present in childhood or adolescence with periarticular soft tissue deposits that eventually progress to disrupt normal joint...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Rambam Maimonides Med J
Prif Awduron: Freedman, J. Daniel, Novak, Rostislav, Bratman Morag, Sharon, Avitan-Hersh, Emily, Nikomarov, David
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Rambam Health Care Campus 2021
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8284990/
https://ncbi.nlm.nih.gov/pubmed/34270404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5041/RMMJ.10445
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!