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Results 1 - 7 of 7 for Geleophysic dysplasia
  1. Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and ...
  2. ... ADAMTSL2 gene have been identified in people with geleophysic dysplasia. Most of these mutations change single protein building ... contributes to the varied signs and symptoms of geleophysic dysplasia. Researchers are working to determine how mutations in ...
  3. ... This Health Condition MedlinePlus Genetics provides information about Geleophysic dysplasia More About This Health Condition MedlinePlus Genetics provides ...
  4. ... they are associated with) include FBN1 ( acromicric dysplasia , geleophysic dysplasia , Marfan syndrome ), GH1 ( isolated growth hormone deficiency ), EVC ( ...
  5. Growth Disorders (National Library of Medicine)  
    Does your child seem much shorter - or much taller - than other kids his or her age? It could be normal. Some children may be small for their age but still be ...
  6. Heart Valve Diseases (National Library of Medicine)  
    What are heart valve diseases? Heart valve disease happens when one or more of your heart valves don't work well. Your heart has four valves: the tricuspid, ...
  7. ... 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89( ...