Genetic diagnosis for a case of hypophosphatasia and the prenatal diagnosis of his sibling
10.3760/cma.j.issn.1674-6090.2019.03.020
- VernacularTitle:低磷酸酯酶症患儿的基因诊断及其同胞产前诊断一例
- Author:
Jia LIU
1
;
Wenting WANG
;
Yongyi MA
Author Information
1. 重庆市南岸区中西医结合医院普通外科 400061
- Keywords:
Hypophosphatasia;
ALPL;
Gene test;
Prenatal diagnosis
- From:
Chinese Journal of Endocrine Surgery
2019;13(3):262-264
- CountryChina
- Language:Chinese
-
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.
