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SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
OBJECTIVE: To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). METHODS: Clinical examination and biochemical profile results and gene analysis of 12 members of a family of a patient previou...
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| Publicado no: | J Clin Res Pediatr Endocrinol |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Galenos Publishing
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6280320/ https://ncbi.nlm.nih.gov/pubmed/29809158 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.0057 |
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