Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The Grebe type acromesomelic dysplasia is an autosomal recessive disorder caused by mutations of the GDF5 gene. The disorder is characterized by severe dwarfism, hypomelia, and deformation of both limbs, and various other bone anomalies can be present.
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OMIM.ORG article Omim 200700
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Orphanet article Orphanet ID 93437
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