Joubert syndrome: More than lower cerebellar vermis hypoplasia, less than a complex brain malformation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference11 articles.
1. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs
2. Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome
3. Molar Tooth Sign in Joubert Syndrome: Clinical, Radiologic, and Pathologic Significance
4. Image of the Month: Joubert Syndrome
5. Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype
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1. J;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
2. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome;Pediatric Nephrology;2005-10-21
3. Brain Malformations;Pediatric Neuroradiology;2005
4. Cerebellum?small brain but large confusion: A review of selected cerebellar malformations and disruptions;American Journal of Medical Genetics;2004
5. Show Your Molar Tooth Properly: Dentistry for Paediatric Neurologists;Neuropediatrics;2003-02
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