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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease chordoma
Comorbidity C0041341|tuberous sclerosis
Sentences 3
PubMedID- 21266383 Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (tsc) from chordoma in the general paediatric population.
PubMedID- 20657690 Only one other case in the literature has analyzed the genetic abnormalities in chordomas found in a patient with tuberous sclerosis with the same genetic abnormalities as in this reported case.
PubMedID- 22613809 chordomas are reported in patients with tuberous sclerosis complex (tsc), an autosomal dominant disorder typified by hamartomas in several organs, epilepsy, mental retardation and behavioural problems.

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