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

[Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases].

Revista de neurologia - 15 Aug 2021

Ramos-Fernández J M, Extraviz-Moreno A, Calvo-Medina R, Ruiz-García C, Mora-Ramírez M D

Abstract excerpt

INTRODUCTION: Joubert syndrome is produced by an alteration of the ciliary proteins essential for the structure and function of neurons and organs such as the kidneys, liver, sight, and hearing. Some 34 mutations are currently known. OBJECTIVE: Calculate the incidence / prevalence, describe the phenotype / genotype and radiological alterations of this ciliopathy in our health area. PATIENTS AND METHODS: We...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Vesicular Transport
Share to Antigens, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellum

Share to Eye Abnormalities

Share to Fingers

Share to Kidney Diseases, Cystic

Share to Neuroimaging

Share to Symptom Assessment

Source

Identifiers

PMID: 34308544
DOI: 10.33588/rn.7304.2021066

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases].PMID 34308544Read ↗

Joubert Syndrome and related disordersSemantic proximity Read ↗

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.Semantic proximity Read ↗

Joubert syndrome: review and report of seven new cases.Semantic proximity Read ↗

Review of Ocular Manifestations of Joubert SyndromeSemantic proximity Read ↗

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.Semantic proximity Read ↗

Joubert syndrome: A reviewSemantic proximity Read ↗

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneitySemantic proximity Read ↗

Genotypes and phenotypes of Joubert syndrome and related disorders.Semantic proximity Read ↗

Healthcare recommendations for Joubert syndromeSemantic proximity Read ↗

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.Semantic proximity Read ↗

Clinical features and revised diagnostic criteria in Joubert syndrome.Semantic proximity Read ↗

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.Semantic proximity Read ↗

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