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.
The "molar tooth" sign.
Thotakura P, Dyer RB.
Abdom Radiol (NY). 2016 Feb;41(2):336-7. doi: 10.1007/s00261-015-0559-9.
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.
Joubert Syndrome.
Parisi M, Glass I.
2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
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.
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.
The molar tooth sign.
McGraw P.
Radiology. 2003 Dec;229(3):671-2. doi: 10.1148/radiol.2293020764.
['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.
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.
