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Thanatophoric Dysplasia

Thanatophoric Dysplasia

This genetic disorders:** known as Thanatophoric Dysplasia, can be Discussed here.

Persons finding themselves or loved ones socially unsettling because of thanatophoric dysplasia may like to share how they cope in order to help others world-wide searching for experiences.

** A mutation / chromosome / missing or additional gene(s)

Dysplasia Thanatophoric

Abnormal development of the brain in an intractable disease, thanatophoric dysplasia

Thanatophoric dysplasia (TD) is an intractable disease with abnormalities of bones and the brain. Because of experimental difficulties, its pathophysiology is largely unknown. In this study, by combining ferrets, whose brain is rather similar to that of humans, and unique technique developed by the present researchers, neuronal translocation along radial glial fibers to the cerebral cortex during fetal brain development has been discovered to be aberrant, which suggests the cause underlying TD. Ref. Source 8u.