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Article

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.

Developmental medicine and child neurology - 1 Jul 2024

Gafner Michal, Haddad Leila, Gupta Rachna, Leibovitz Zvi, Zilberman Ron Itamar, Ben-Sira Liat, Libzon Stephanie, Gindes Liat, Boltshauser Eugen, Lerman-Sagie Tally

Abstract excerpt

Hydrocephalus is rarely described in Joubert-Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed. Records from an additional family were obtained from RG. The patients' medical records,...

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Identifiers

PMID: 38247023
DOI: 10.1111/dmcn.15845

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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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