| Something to sink your teeth into. | |
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MedLine Citation:
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PMID: 21458016 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 21-year-old Kuwaiti man had cerebral palsy, retinitis pigmentosa, hypertension, and renal failure. His younger brother and sister displayed similar findings. Ocular motility examination disclosed aperiodic alternating skew deviation in the patient and his younger brother. Magnetic resonance imaging showed hypoplasia of the superior cerebellar vermis with a "molar tooth" sign. Genetic testing confirmed an AHPI gene mutation on chromosome 6p23.3 in the patient and his siblings, confirming the diagnosis of Joubert syndrome. This case demonstrates the need to consider the diagnosis of Joubert syndrome in adults with retinitis pigmentosa or familial alternating skew deviation. |
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Authors:
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Steven M Couch; Scott E Brodie; Jacqueline A Leavitt; Michael C Brodsky |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2011-04-01 |
Journal Detail:
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Title: Survey of ophthalmology Volume: 56 ISSN: 1879-3304 ISO Abbreviation: Surv Ophthalmol Publication Date: 2011 Nov-Dec |
Date Detail:
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Created Date: 2011-11-28 Completed Date: 2012-01-27 Revised Date: 2012-03-22 |
Medline Journal Info:
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Nlm Unique ID: 0404551 Medline TA: Surv Ophthalmol Country: United States |
Other Details:
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Languages: eng Pagination: 544-9 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adaptor Proteins, Signal Transducing
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genetics Cerebellar Diseases / diagnosis*, genetics Cerebellum / pathology* Child Child, Preschool Chromosomes, Human, Pair 6 / genetics Eye Abnormalities / diagnosis*, genetics Female Humans Hypertension / diagnosis, genetics Kidney Diseases, Cystic / diagnosis*, genetics Kidney Failure, Chronic / diagnosis, genetics Magnetic Resonance Imaging Male Mutation, Missense Pedigree Retina / abnormalities Retinitis Pigmentosa / diagnosis, genetics Siblings Visual Acuity Young Adult |
| Chemical | |
Reg. No./Substance:
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0/AHI1 protein, human; 0/Adaptor Proteins, Signal Transducing |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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