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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease noonan syndrome
Comorbidity C0349639|juvenile myelomonocytic leukemia
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PubMedID- 22315187 Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with noonan syndrome carrying the germline ptpn11 mutation p.e139d.
PubMedID- 25358541 The disorder was named "cbl syndrome" or "noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" (nsll).

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