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Article

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Pediatric neurology - 1 May 2020

Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Lokesh

Abstract excerpt

BACKGROUND: Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosis. Joubert syndrome is a clinically and genetically heterogeneous disorder involving mutations in 35 ciliopathy-related genes. We present a large...

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Identifiers

PMID: 32139166
DOI: 10.1016/j.pediatrneurol.2020.01.012

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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.

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