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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease gigantism
Comorbidity C0028326|noonan syndrome
Sentences 3
PubMedID- 22640403 These findings support the notion that the giant cell lesions in patients with noonan syndrome are distinct from cherubism.
PubMedID- 22848035 Case report: noonan syndrome with multiple giant cell lesions and review of the literature.
PubMedID- 24225993 A new mutation in the c-sh2 domain of ptpn11 causes noonan syndrome with multiple giant cell lesions.

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