Genetic diagnosis for a case of hypophosphatasia and the prenatal diagnosis of his sibling / 中华内分泌外科杂志

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.