Učitavanje...
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations
Inactivating mutations of the ENPP1 gene are associated with generalized arterial calcification of infancy (GACI) and less often autosomal-recessive hypophosphatemic rickets type 2 (ARHR2). We aimed to investigate the spectrum of phenotypes in a family with monoallelic and biallelic mutations of ENP...
Spremljeno u:
| Izdano u: | J Bone Miner Res |
|---|---|
| Glavni autori: | , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2020
|
| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7771569/ https://ncbi.nlm.nih.gov/pubmed/31826312 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3938 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|