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Brain anomalies in encephalocraniocutaneous lipomatosis.
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
X-linked malformations of cortical development.
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Brain anomalies in encephalocraniocutaneous lipomatosis.
Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72.
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PubMed
subject areas
Abnormalities, Multiple
Adolescent
Brain
Brain Diseases
Child
Child, Preschool
Eye Diseases
Female
Humans
Infant
Lipomatosis
Magnetic Resonance Imaging
Male
Neurocutaneous Syndromes
Syndrome
authors with profiles
William B. Dobyns