Genetic Varieties of Jouberts Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-19-5-10

Genetic Varieties of Jouberts Syndrome

Pediatric Neurology Briefs

Volume 19 (2005): Issue 5

By: J Gordon Millichap

Open Access

|May 2005

Abstract

Four families with linkage to two loci for Jouberts syndrome (JS), JBTS1 or JBTS2, and clinical and radiographic correlations for 4 known genetic causes of JS-related disorders (JSRD) are described in a report from University of California-San Diego, La Jolla, CA, and centers in Europe and the Middle East.

References

Valente EM Marsh SE Castori M Dixon-Salazar T Bertini E Al-Gazali L Distinguishing the four genetic causes of Jouberts syndrome-related disorders Ann Neurol 2005 Apr 57 4 513 519 10.1002/ana.20422 15786477
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Bordarier C Aicardi J Dandy-Walker syndrome and agenesis of the cerebellar vermis: diagnostic problems and genetic counselling Dev Med Child Neurol 1990 Apr 32 4 285 294 10.1111/j.1469-8749.1990.tb16939.x 2185113
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-19-5-10 | Journal eISSN: 2166-6482

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Language: English

Page range: 39 - 39

Published on: May 1, 2005

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Jouberts Syndrome,

Molar Tooth Sign,

Hypotonia

© 2005 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 19 (2005): Issue 5