Genetic Varieties of Jouberts Syndrome

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-19-5-10

Keywords:

Jouberts Syndrome, Molar Tooth Sign, Hypotonia

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.

Published

2005-05-01

Issue

Section

Congenital Malformations