Associated Papers
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Vilboux T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Vilboux T et al.
American Journal of Medical Genetics. Part A, 2017
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