Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

doi:10.1016/j.ajhg.2017.05.010

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Article

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

American journal of human genetics - 6 Jul 2017

Van De Weghe Julie C, Rusterholz Tamara D S, Latour Brooke, Grout Megan E, Aldinger Kimberly A, Shaheen Ranad, Dempsey Jennifer C, Maddirevula Sateesh, Cheng Yong-Han H, Phelps Ian G, Gesemann Matthias, Goel Himanshu, Birk Ohad S, Alanzi Talal, Rawashdeh Rifaat, Khan Arif O, Bamshad Michael J, Nickerson Deborah A, Neuhauss Stephan C F, Dobyns William B, Alkuraya Fowzan S, Roepman Ronald, Bachmann-Gagescu Ruxandra, Doherty Dan

Abstract excerpt

Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malf...

Topics

Abnormalities, Multiple
Animals
Armadillo Domain Proteins
Basal Bodies
Base Sequence
Brain
Cerebellum
Cilia
Ciliopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Diagnostic Imaging

Exome

Eye Abnormalities

Genetic Predisposition to Disease

Humans

Kidney Diseases, Cystic

Mutation

Phenotype

Retina

Source

Open in PubMed Open full text

Identifiers

PMID: 28625504
DOI: 10.1016/j.ajhg.2017.05.010
PMCID: PMC5501774

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-28625504-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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