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18 results
  1. 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 ...
  2. 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 ...
  3. 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 ...
  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. 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 ...
  6. 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_ ...
  7. Trichorhinophalangeal Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK425926
    ... DYNC2LI1 EVC EVC2 GLI PRKACA PRKACB SMO WDR35 Ellis-van Creveld syndrome AR AD 1 Short stature Brachydactyly Nasal shape ... inheritance; PTH = parathyroid hormone; TRPS = trichorhinophalangeal syndrome 1. Ellis-van Creveld (EVC) syndrome caused by pathogenic variants in DYNC2H1 , DYNC2LI1 , EVC , ...
  8. 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 ( ...
  9. 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) -- ~ ...
  10. 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 EVC EVC2 AR CHD Dandy-Walker malformation Limb & ...
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