Does the Co-occurrence of FGFR3 Gene Mutation in Hypochondroplasia, Medial Temporal Lobe Dysgenesis, and Focal Epilepsy Suggest a Syndrome?
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference14 articles.
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2. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans;Vajo;Endocr Rev,2000
3. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia;Song;Am J Med Genet,2012
4. Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia;Grosso;Am J Med Genet,2003
5. Medial temporal lobe dysgenesis in hypochondroplasia;Kannu;Am J Med Genet,2005
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2. Hypochondroplasia and temporal lobe epilepsy – A series of 4 cases;Epilepsy & Behavior;2022-01
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