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Karak syndrome

MedGen UID:
413789
Concept ID:
C2750220
Disease or Syndrome
Synonym: Karak Syndrome
 
OMIM®: 603604; 610217

Recent clinical studies

Etiology

Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C
Brain Dev 2017 Feb;39(2):93-100. Epub 2016 Nov 21 doi: 10.1016/j.braindev.2016.08.012. PMID: 27884548
Kinghorn KJ, Castillo-Quan JI, Bartolome F, Angelova PR, Li L, Pope S, Cochemé HM, Khan S, Asghari S, Bhatia KP, Hardy J, Abramov AY, Partridge L
Brain 2015 Jul;138(Pt 7):1801-16. Epub 2015 May 22 doi: 10.1093/brain/awv132. PMID: 26001724Free PMC Article
Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H
PLoS One 2013;8(10):e76831. Epub 2013 Oct 9 doi: 10.1371/journal.pone.0076831. PMID: 24130795Free PMC Article
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ
Nat Genet 2006 Jul;38(7):752-4. Epub 2006 Jun 18 doi: 10.1038/ng1826. PMID: 16783378Free PMC Article
Mubaidin A, Roberts E, Hampshire D, Dehyyat M, Shurbaji A, Mubaidien M, Jamil A, Al-Din A, Kurdi A, Woods CG
J Med Genet 2003 Jul;40(7):543-6. doi: 10.1136/jmg.40.7.543. PMID: 12843330Free PMC Article

Diagnosis

Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C
Brain Dev 2017 Feb;39(2):93-100. Epub 2016 Nov 21 doi: 10.1016/j.braindev.2016.08.012. PMID: 27884548
Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H
PLoS One 2013;8(10):e76831. Epub 2013 Oct 9 doi: 10.1371/journal.pone.0076831. PMID: 24130795Free PMC Article
Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER
Neurology 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986.48286.8e. PMID: 18443314

Prognosis

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H
PLoS One 2013;8(10):e76831. Epub 2013 Oct 9 doi: 10.1371/journal.pone.0076831. PMID: 24130795Free PMC Article

Clinical prediction guides

Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H
PLoS One 2013;8(10):e76831. Epub 2013 Oct 9 doi: 10.1371/journal.pone.0076831. PMID: 24130795Free PMC Article

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