Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Thanatophoric dysplasia 2 is an autosomal dominant disorder caused by mutations of the FGFR3 gene. It is characterized by a short-limb dwarfism. Typical of type 2 is a relatively long femur and a cloverleaf skull. The disease is lethal in the perinatal period.
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OMIM.ORG article Omim 187601
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Orphanet article Orphanet ID 2655
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Wikipedia article Wikipedia EN (Thanatophoric_dysplasia)
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