Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotype and clinical outcomes in children with congenital adrenal hyperplasia.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jun 2021

Yoon Ju Young, Cheon Chong Kun

Abstract excerpt

BACKGROUND: The study aimed to delineate the genotypic features and endocrine / metabolic profiles in patients with 21-hydroxylase deficiency. METHODS: Subjects were diagnosed with 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and followed up in Pusan National University Children's Hospital from July 2008 to April 2019. The genotype, phenotype,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Adrenal Hyperplasia, Congenital
Share to Alleles

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Infant

Share to Steroid 21-Hydroxylase

Share to Young Adult

Source

Identifiers

PMID: 32965796
DOI: 10.1111/ped.14478

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype and clinical outcomes in children with congenital adrenal hyperplasia.PMID 32965796Read ↗

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.Semantic proximity Read ↗

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical ImplicationsSemantic proximity Read ↗

Congenital adrenal hyperplasia in Saudi Arabia: Epidemiology, genetic mutations, and evolving management strategies.Semantic proximity Read ↗

Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life.Semantic proximity Read ↗

CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.Semantic proximity Read ↗

Congenital adrenal hyperplasia: phenotype and genotype.Semantic proximity Read ↗

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.Semantic proximity Read ↗

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.Semantic proximity Read ↗

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.Semantic proximity Read ↗

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.Semantic proximity Read ↗

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.