Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D.
Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11.
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G.
J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1.
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM.
Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3.
The "molar tooth" sign.
Thotakura P, Dyer RB.
Abdom Radiol (NY). 2016 Feb;41(2):336-7. doi: 10.1007/s00261-015-0559-9.
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY.
Krajewska-Walasek M, Kugaudo M, Jędrzejowska M, Cieślikowska A, Ichkou A, Attié-Bitach T, Jezela-Stanek A.
Genet Couns. 2015;26(2):171-9.
['Molar tooth' sign].
Viñas JM, González MJ, Ribes AG, Errasti IS.
An Pediatr (Barc). 2012 Feb;76(2):105-6. doi: 10.1016/j.anpedi.2011.05.022. Epub 2011 Jul 16.
Joubert Syndrome: A Molar Tooth Sign in Disguise.
Shaik L, Ravalani A, Nelekar S, Gorijala VK, Shah K.
Cureus. 2020 Aug 13;12(8):e9718. doi: 10.7759/cureus.9718.
"Mini Molar Tooth" Sign in POLR3B-Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy.
Marsili L, Kauffman MA, Talavera de la Esperanza B, Yu Z, Gilbert DL, Espay AJ.
Mov Disord Clin Pract. 2025 Jun 11. doi: 10.1002/mdc3.70176. Online ahead of print.
Joubert syndrome with the decaying molar tooth sign: report of 2 cases.
Scortegagna F, Corrêa DG, Pacheco FT, Nunes RH, da Rocha AJ.
Acta Neurol Belg. 2024 Sep 6. doi: 10.1007/s13760-024-02635-5. Online ahead of print.
The molar tooth sign is pathognomonic for Joubert syndrome!
Poretti A, Boltshauser E, Valente EM.
Pediatr Neurol. 2014 Jun;50(6):e15-6. doi: 10.1016/j.pediatrneurol.2013.11.003. Epub 2013 Nov 14.
