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.
KeywordsPreimplantation Genetic Diagnosis Pathogenic Variant Superior Cerebellar Peduncle Joubert Syndrome Oculomotor Apraxia
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