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PedAM

Pediatric Disease Annotations & Medicines




Disease hirschsprung disease
Phenotype C0007115|thyroid ca
Sentences 2
PubMedID- 22584707 In the present study, we report the genetic findings in a novel family with multiple endocrine neoplasia type 2: a specific ret haplotype was documented in patients with hirschsprung disease associated with medullary thyroid carcinoma, but it was absent in patients with only medullary thyroid carcinoma.
PubMedID- 20152359 Familial associations in medullary thyroid carcinoma with hirschsprung disease: the role of the ret-c620 "janus" genetic variation.

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