Article
[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2016
Wang R F, Gu X F, Ye J, Han L S, Qiu W J, Zhang H W, Yu Y G, Gong Z W
Abstract excerpt
OBJECTIVE: To analyze the phenotype-genotype correlation of 21-hydroxylase deficiency (21-OHD) patients found by neonatal screening, and to investigate the characteristics of gene frequency of these patients. METHOD: Clinical and biochemical data of 66 21-OHD patients diagnosed by neonatal screen...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Asian People
- China
- Female
- Gene Deletion
- Gene Frequency
- Genetic Association Studies
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Multiplex Polymerase Chain Reaction
- Mutation
- Neonatal Screening
- Phenotype
- Point Mutation