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15 results
  1. Ellis-van Creveld syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/ellis-van-creveld-syndrome
    ... gov Catalog of Genes and Diseases from OMIM ELLIS-VAN CREVELD SYNDROME; EVC Scientific Articles on PubMed PubMed References Baujat G, Le Merrer M. Ellis-van Creveld ...
  2. McKusick-Kaufman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1502
    ... described in Molecular Pathogenesis [ Hirayama et al 2008 ]. References Literature Cited Al-Khenaizan S, Al-Sannaa N, Teebi AS. What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome. Pediatr Dermatol. 2001; 18 :68–70. [ PubMed : ...
  3. EVC gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/evc
    ... Ellis van Creveld protein Ellis van Creveld syndrome Ellis van Creveld syndrome protein EVC1 EVC_HUMAN EVCL ... References Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur ...
  4. EVC2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/evc2
    ... for This Gene Ellis van Creveld syndrome 2 Ellis van Creveld syndrome 2 (limbin) LBN LBN_HUMAN limbin ... References Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur ...
  5. Weyers acrofacial dysostosis: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/weyers-acrofacial-dysostosis
    ... ACROFACIAL DYSOSTOSIS; WAD Scientific Articles on PubMed ... in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet. 1997 Dec;61( ...
  6. 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 ...
  7. 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. ...
  8. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/ellis-van-creveld-syndrome</url><title >Ellis-van Creveld syndrome</title><other_ ...
  9. Ritscher-Schinzel Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK553049
    ... kidneys Presence of "molar tooth sign" neuroradiologic finding Ellis-van Creveld syndrome (OMIM 225500 ) EVC EVC2 AR CHD Dandy-Walker ...
  10. Char Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1106
    ... facial features resembling a fetal face EVC EVC2 Ellis-van Creveld syndrome (OMIM 225500 ) AR Present in 50-60% of ...
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