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Author Topic:   Midbrain-hindbrain malformations
posted 09-17-2002 05:04 PM     Click Here to See the Profile for jogleeson   Click Here to Email jogleeson     Edit/Delete Message Reply w/Quote
Dear Colleagues,
We are looking for collaborations with clinicians or researchers who have access to families or isolated cases with midbrain-hindbrain malformations as defined by brain MRI. These include Joubert syndrome, cerebellar malformations, and the "molar-tooth" malformation of the brainstem (OMIM213300, 117360, 208920). Patients typically present with oculomotor apraxia, ataxia and breathing rhythm abnormalities. Goal is to identify new loci and positionally clone disease genes.

Dr. Joseph G. Gleeson
Dept. Neurosciences
University of California, San Diego
La Jolla, CA 92093-0624
tel: 858-822-3535
fax: 858-534-1437



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