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Article

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Neurology - 12 Feb 2008

Zaki M S, Abdel-Aleem A, Abdel-Salam G, Marsh S E, Silhavy J L, Barkovich A J, Ross M E, Saleem S N, Dobyns W B, Gleeson J G

Abstract excerpt

Joubert syndrome and related cerebellar disorders (JSRD) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. The pathognomonic finding in JSRD is the unique molar tooth sign (MTS) on brain imaging. There is a tremendously broad spectrum of signs and symptoms mainly including kidney, retina, and liver...

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Source

Identifiers

PMID: 18268248
DOI: 10.1212/01.wnl.0000277644.12087.fd

Genes

AHI1

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.

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