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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...

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Bibliographic Details
Main Authors:	Fengdan Yu (Author), Junyi Wang (Author), Xiaojing Xu (Author)
Format:	Book
Published:	BMC, 2019-04-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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