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Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
BACKGROUND: Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase (TNAP) activity. The clinical presentation of HPP is highly variable, and the prognosis for the infantile form is poor....
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461808/ https://www.ncbi.nlm.nih.gov/pubmed/30979366 http://dx.doi.org/10.1186/s12887-019-1478-7 |