Abstract
Hypophosphatasia is a rare hereditary metabolic bone disease caused by ALPL gene mutation. This papaer report the genetic diagnosis of a child with childhood hypophosphatasia, and the prenatal diagnosis of his sibling. We hope it can provide reference for clinical diagnosis and prenatal diagnosis of this disease. Key words: Hypophosphatasia; ALPL; Gene test; Prenatal diagnosis
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
