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Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M, Micalizzi A, Valente EM. Romani M, et al. Lancet Neurol. 2013 Sep;12(9):894-905. doi: 10.1016/S1474-4422(13)70136-4. Epub 2013 Jul 17. Lancet Neurol. 2013. PMID: 23870701 Free PMC article. Review.
Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign. ...The primary ciliu
Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark o
Total Intravenous Anesthesia in Joubert Syndrome Patient for Otorhinolaryngology Surgery: A Case Report and Mini Review of the Literature.
Kloka J, Blum LV, Piekarski F, Zacharowski K, Raimann FJ. Kloka J, et al. Am J Case Rep. 2020 Aug 7;21:e923018. doi: 10.12659/AJCR.923018. Am J Case Rep. 2020. PMID: 32764531 Free PMC article. Review.
BACKGROUND Joubert syndrome is a rare autosomal recessive disorder first described in 1969, with an estimated prevalence of 1 in 100 000. Joubert syndrome is characterized by partial or complete agenesis of the cerebellar vermis - the structure that co …
BACKGROUND Joubert syndrome is a rare autosomal recessive disorder first described in 1969, with an estimated prevalence of 1 …
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z. Zhang K, et al. Clin Dysmorphol. 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. Clin Dysmorphol. 2017. PMID: 28505061 Review.
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'mo
CP or not CP? A review of diagnoses in a cerebral palsy register.
Zarrinkalam R, Russo RN, Gibson CS, van Essen P, Peek AK, Haan EA. Zarrinkalam R, et al. Pediatr Neurol. 2010 Mar;42(3):177-80. doi: 10.1016/j.pediatrneurol.2009.09.001. Pediatr Neurol. 2010. PMID: 20159426 Review.
Of these, 5 had either a metabolic or a neurodegenerative disorder and 2 had a syndromic disorder (1 Joubert syndrome and 1 Sotos syndrome); the remaining 14 children had one of the following final diagnoses: developmental delay, gross motor delay, perinatal myositi …
Of these, 5 had either a metabolic or a neurodegenerative disorder and 2 had a syndromic disorder (1 Joubert syndrome and 1 So …