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Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene

Thumb HypoplasiaRare DiseasesMendelian DisorderGenetic DisorderGeneticsSurgical PathologyHistopathologyPerlecan GenePathologyDyssegmental DysplasiaDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationDermatologyMedicineFunctional Null Mutations