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Geleophysic dysplasia 3
- ... Wilkinson AR, Hurst JA, McGaughran JM, Donnai D. Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ...
- ... ADAMTSL2 gene have been identified in people with geleophysic dysplasia. Most of these mutations change single protein building blocks (amino acids) in the ADAMTSL2 protein, which probably alters the protein's 3-dimensional shape.Through a process that is poorly ...
- ... This Health Condition MedlinePlus Genetics provides information about Geleophysic dysplasia More About This Health Condition MedlinePlus Genetics provides ...
- ... they are associated with) include FBN1 ( acromicric dysplasia , geleophysic dysplasia , Marfan syndrome ), GH1 ( isolated growth hormone deficiency ), EVC ( ...
- 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, ...