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42 results
  1. EVC2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/evc2
    ... of this protein's function underlies the signs and symptoms of Ellis-van Creveld syndrome, researchers believe that it may prevent normal Sonic ... the teeth, nails, and bones. Its signs and symptoms are similar to, but ... syndrome. The mutations that cause Weyers acrofacial dysostosis occur ...
  2. EVC gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/evc
    ... of this protein's function underlies the signs and symptoms of Ellis-van Creveld syndrome, researchers believe that it may prevent normal Sonic ... the teeth, nails, and bones. The signs and symptoms of Weyers acrofacial dysostosis ... syndrome. The EVC gene mutation that causes Weyers acrofacial ...
  3. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. Gen Dent. 2011 Sep-Oct; 59 (5):e206– ...
  4. Ellis-van Creveld syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/ellis-van-creveld-syndrome
    ... unknown. Learn more about the genes associated with Ellis-van Creveld ... and symptoms of the condition. Other Names for This Condition ...
  5. Dwarfism 
    https://medlineplus.gov/dwarfism.html
    A dwarf is a person of short stature - under 4' 10" as an adult. Many conditions can cause dwarfism but Achondroplasia causes about 70 percent. ... People with dwarfism ...
  6. Tooth - abnormal shape 
    https://medlineplus.gov/ency/article/003064.htm
    ... Incontinentia pigmenti achromians Cleidocranial dysostosis Ehlers-Danlos syndrome Ellis-van Creveld syndrome
  7. Ellis-van Creveld syndrome 
    https://medlineplus.gov/ency/article/001667.htm
    ... is caused by defects in 1 of 2 Ellis-van Creveld syndrome genes ( EVC and EVC2 ). ... County, Pennsylvania. It is fairly rare in the general population.
  8. McKusick-Kaufman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1502
    ... genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum ... Dollfus H. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and ...
  9. Ritscher-Schinzel Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK553049
    ... Disorder Gene(s) MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/RSS Distinguishing from RSS Joubert ... Creveld syndrome (OMIM 225500 ) EVC EVC2 AR CHD Dandy- ...
  10. 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 ...
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