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107 results
  1. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... OFD1 Allelic Disorders View in own window Disorder References OFD1 -related Joubert syndrome Coene et al [2009] , Field et al [2012] , ...
  2. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... posted live 27 January 2003 (mp) Original submission References Published Guidelines / Consensus Statements Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Available online . 2007. ...
  3. Kidney Cyst | Polycystic Kidney Disease | MedlinePlus 
    https://medlineplus.gov/kidneycysts.html
    ... Joubert Syndrome:... Article: Production and characterisation of four Joubert syndrome ... Reference Desk Kidneys and Urinary Tract (For Parents) (Nemours ...
  4. Peters Plus Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1464
    ... reduce or abolish the function of the protein. References Literature Cited Boog G, Le Vaillant C, Joubert M. Prenatal sonographic findings in Peters-plus syndrome. Ultrasound Obstet Gynecol. 2005; 25 :602–6. [ PubMed : ...
  5. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Gunay-Aygun M, Gahl WA, Heller T. GeneReviews(®). 1993 Review Joubert Syndrome. [GeneReviews(®). 1993] Review Joubert Syndrome. Parisi M, Glass ...
  6. Polymicrogyria 
    https://medlineplus.gov/genetics/condition/polymicrogyria
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the ... CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2005 Apr 18 [updated 2018 Aug 16]. ...
  7. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... part of syndromes including Senior-Loken syndrome and Joubert syndrome (see Table 2 ). Early molecular diagnosis can help ... waveform. NCL is assoc w/neurocognitive decline & epilepsy. Joubert syndrome >30 genes 5 AR XL 6 Presents w/ ...
  8. Ritscher-Schinzel Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK553049
    ... DiffDx Disorder Overlapping w/RSS Distinguishing from RSS Joubert Syndrome >30 genes 1 AR (XL, digenic) 2 ID ... Ritscher-Schinzel syndrome; XL = X-linked 1. See Joubert Syndrome . 2. Joubert syndrome is predominantly inherited in an ...
  9. Pitt-Hopkins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100240
    ... ataxia almost universal; absence of PTHS facial features Joubert syndrome (JS) Various; >20 reported 1 AR (XL) 2 ... mode of inheritance; XL = X-linked 1. See Joubert Syndrome to view genes associated with this phenotype. 2. ...
  10. PAX2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1451
    ... of a PAX gene expressed in the eye Joubert syndrome and related disorders (JSRD) >30 genes AR 5 ... al [2001] 4. Azuma et al [2003] 5. Joubert syndrome is inherited predominantly in an autosomal recessive manner. ...
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