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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 ( ...