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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 screening in department of pediatric endocrinology and genetics and neonatal screening center of Xinhua Hospital Affiliated...

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Identifiers

PMID: 27596083
DOI: 10.3760/cma.j.issn.0578-1310.2016.09.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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