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Joubert Syndrome

  • Harold Chen
Living reference work entry

Abstract

In 1969, Joubert et al. (1969) first documented three brothers and one sister who had episodic hyperpnea, abnormal eye movements, ataxia, mental retardation, and cerebellar vermian hypoplasia and aplasia. Later in 1977, Boltshauser and Isler (1977) reported three more cases with variable degrees of clinical symptoms and suggested the syndrome be called Joubert syndrome.

Keywords

Preimplantation Genetic Diagnosis Pathogenic Variant Superior Cerebellar Peduncle Joubert Syndrome Oculomotor Apraxia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA
  2. 2.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA

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