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Thanatophoric dysplasia
- Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features ...
- ... and in people with skeletal disorders known as thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans, and severe achondroplasia ... FGFR3 gene have been identified in people with thanatophoric dysplasia, which is a severe skeletal disorder characterized by ...