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 Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.

Indian pediatrics - 15 Oct 2024

Karlekar Manjiri, Barnabas Rohit, Sarathi Vijaya, Lila Anurag, Arya Sneha, Hegishte Samiksha, Bhandare Vishwambhar V, Memon Saba Samad, Patil Virendra, Bandgar Tushar, Kunwar Ambarish, Shah Nalini

Abstract excerpt

OBJECTIVE: To describe the genotype-phenotype characteristics of patients with 21-hydroxylase deficiency from western India and ascertain the prevalence of various phenotypes of 21-hydroxylase deficiency. METHODS: Patients with 21-hydroxylase deficiency, diagnosed clinically and biochemically, were prospectively enrolled and classified into salt wasting (SW), simple virilizing (SV), and non-classic (NC)...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hyperplasia, Congenital
Share to Child

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

Share to Child, Preschool

Share to Genotype

Share to Infant

Share to Infant, Newborn

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 39051316

Genes

CYP21A2

Variants

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 Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.PMID 39051316Read ↗

Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiencySemantic proximity Read ↗

First insights into the genetics of 21-hydroxylase deficiency in the Roma population.Semantic proximity Read ↗

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

The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.Semantic proximity Read ↗

Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.Semantic proximity Read ↗

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.Semantic proximity Read ↗

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.Semantic proximity Read ↗

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.Semantic proximity Read ↗

Challenges of CYP21A2 genotyping in children with 21-hydroxylase deficiency: determination of genotype-phenotype correlation using next generation sequencing in Southeastern Anatolia.Semantic proximity Read ↗

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.Semantic proximity Read ↗

[Clinical and genetic characteristics of 165 children with salt-wasting 21-hydroxylase deficiency in Henan Province].Semantic proximity Read ↗

Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.Semantic proximity Read ↗

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