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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Book |
| Published: |
BMC,
2019-04-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Be the first to leave a comment!