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

Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.

Frontiers in endocrinology - 1 Jan 2024

Zhang Jianmei, Yang Suhong, Zhang Yan, Liu Fei, Hao Lili, Han Lianshu

Abstract excerpt

Background: This study aimed to characterize the clinical phenotype and genetic variations in patients with Kallmann syndrome (KS). Methods: This study involved the collection and analysis of clinical data from an individual with sporadic KS. Following this, peripheral blood samples were obtained from the patient and his parents. Genomic deoxyribonucleic acid was extracted and subjected to whole-exome sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to DNA Copy Number Variations
Share to Kallmann Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mothers

Share to Mutation

Share to Phenotype

Share to Receptors, Interleukin

Share to RNA-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 38628584
DOI: 10.3389/fendo.2024.1343977
PMCID: PMC11019388

Genes

IL17RD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.PMID 38628584Read ↗

Molecular Diagnosis of Kallmann Syndrome by Whole Exon Sequencing and Bioinformatic Approaches Semantic proximity Read ↗

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.Semantic proximity Read ↗

Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the DiseaseSemantic proximity Read ↗

Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous MastitisSemantic proximity Read ↗

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.Semantic proximity Read ↗

Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome.Semantic proximity Read ↗

Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.Semantic proximity Read ↗

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.Semantic proximity Read ↗

The evolving genetic landscape of ILVEN: A comprehensive review.Semantic proximity Read ↗

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.Semantic proximity Read ↗

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.Semantic proximity Read ↗

Uncovering potential single nucleotide polymorphisms, copy number variations and related signaling pathways in primary Sjogren's syndrome.Semantic proximity Read ↗

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