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Rathbun syndrome (hypophosphatasia) due to the heterozygous variant c.297+5G>A in alkaline phosphatase with unusual phenotype
Autores principales: | Finsterer, Josef, Stöllberger, Claudia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812593/ https://www.ncbi.nlm.nih.gov/pubmed/34924504 http://dx.doi.org/10.1097/CM9.0000000000001777 |
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