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22 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. Ellis-van Creveld Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK596643
    ... posted live 5 July 2023 (jds) Original submission References Literature Cited Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T, Cormier-Daire V, et al. Ellis-van Creveld syndrome: clinical and molecular analysis of 50 Individuals. J ...
  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. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... Senior-Løken syndrome (OMIM 616307 ) WDR35 Chondroectodermal dysplasia ( Ellis-van Creveld syndrome ) 1 SRPS type 5 1 SRPS unclassified 1 ... ciliopathies, Jeune asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Ellis-van Creveld syndrome , and the short-rib polydactyly syndromes resemble CED ...
  8. 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. ...
  9. McKusick-Kaufman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1502
    ... Overlapping Clinical Features Hydrometrocolpos and postaxial polydactyly (PAP) Ellis-van Creveld syndrome (EVC). Cardinal phenotypic features of EVC comprise chondrodysplasia ...
  10. 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_ ...
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