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10 results
  1. Genetic Disorders 
    https://medlineplus.gov/geneticdisorders.html
    A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn about the types and how they are detected. ... Genes are the building ...
  2. Bone Diseases 
    https://medlineplus.gov/bonediseases.html
    Bone diseases increase your risk for breaking bones. Learn about different kinds of bone problems and how genetics can play a role. ... Your bones help you move, ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Ellis-van Creveld syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... 8712491 ] 612. Varela M, Ramos C. Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report. Eur J Orthod. 1996 Aug; ... FN, Yassin OM, Sasa IS. Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies. ...
  5. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... short-rib polydacytly syndromes, Mainzer-Saldino syndrome, and Ellis-van Creveld syndrome , collectively referred to as short-rib thoracic dysplasia ( ...
  6. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish ... 
    https://www.ncbi.nlm.nih.gov/books/NBK558237
    ... 4 Strauss & Puffenberger [2009] , Xin & Wang [2013] EVC Ellis-van Creveld syndrome AR c.1886+5G>T (IVS13+5G>T) -- ~ ...
  7. Nonsyndromic Tooth Agenesis Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK572295
    ... PubMed : 26416033 ] Katti S, Oswal P, Vas A. Ellis-van Creveld syndrome: a rare case report. Journal of Interdisciplinary Dentistry. ...
  8. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... A term that has been used to encompasse Ellis-van Creveld syndrome (EVC), short-rib polydactyly syndrome (SRPS), JATD, and ...