Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
Abstract 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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2019-04-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12887-019-1478-7 |