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 and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy.

Developmental medicine and child neurology - 1 Jul 2024

Gana Simone, Valente Enza Maria

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Cerebellum
Share to Ciliopathies
Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydrocephalus

Share to Kidney Diseases, Cystic

Share to Magnetic Resonance Imaging

Share to Retina

Source

Identifiers

PMID: 38385764
DOI: 10.1111/dmcn.15887

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy.PMID 38385764Read ↗

The ciliopathies: an emerging class of human genetic disorders.Semantic proximity Read ↗

Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic DystrophySemantic proximity Read ↗

KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism.Semantic proximity Read ↗

The role of cilia for hydrocephalus formationSemantic proximity Read ↗

Ciliopathies.Semantic proximity Read ↗

[Genetic complexity of ciliopathies and novel genes identification].Semantic proximity Read ↗

The nonmotile ciliopathies.Semantic proximity Read ↗

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

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

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.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 ↗

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.Semantic proximity Read ↗

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