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  1. pdfNLM Technical Bulletin, no.33-44 
    https://www.nlm.nih.gov/.../nlmarchives/techbull/33-44-1972.pdf
    ... C3_ CRANIOFACIAL DYSOSTOSIS (C16)-EXPLODE €3.30.24 ELLIS-VAN CREVELD SYNDROME (C12, C16) JAW DISEASES-EXPLODE C3.20.26 ... SYNDROME (C4, Cll) DE LANGE'S SYNDROME (CIO, C16) ELLIS-VAN CREVELD SYNDROME (C3, C16) STEVENS-JOHNSON SYNDROME (C4, Cll) C14 ...
  2. 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_ ...
  3. 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 , ...
  4. Glossary | Victor A. McKusick - Profiles in Science 
    https://profiles.nlm.nih.gov/spotlight/jq/feature/glossary
    ... graph the variations of the x-ray intensities. Ellis-van Creveld syndrome -- An autosomal recessive skeletal dysplasia characterized by short ...
  5. Tooth - abnormal shape 
    https://medlineplus.gov/ency/article/003064.htm
    ... Incontinentia pigmenti achromians Cleidocranial dysostosis Ehlers-Danlos syndrome Ellis-van Creveld syndrome
  6. Polydactyly 
    https://medlineplus.gov/ency/article/003176.htm
    Causes may include: Asphyxiating thoracic dystrophy Carpenter syndrome Ellis-van Creveld syndrome (chondroectodermal dysplasia) Familial polydactyly Laurence-Moon-Biedl syndrome ...
  7. 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 ( ...
  8. Tooth formation - delayed or absent 
    https://medlineplus.gov/ency/article/003061.htm
    ... Apert syndrome Cleidocranial dysostosis Down syndrome Ectodermal dysplasia Ellis-van Creveld syndrome Hypothyroidism Hypoparathyroidism Incontinentia pigmenti achromians Progeria
  9. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... W El-Hattab. Initial Posting: September 29, 2022. Ellis-van Creveld Syndrome Jorge Diogo Da Silva, Nataliya Tkachenko, and Ana ...
  10. 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) -- ~ ...
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