Jongmans, M.C.J.

Update Persondata

• cancer
• gene
• mutations
• patients
• risk

Publications

(the most recent at the top)

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.

All publications..