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Results 1 - 2 of 2 for "Café-au-lait" macules with pulmonary stenosis
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  1. Neurofibromatosis type 1 
    ... develops the tumors characteristic of neurofibromatosis type 1. Neurofibromatosis 1 NF1 Peripheral neurofibromatosis Recklinghausen disease, nerve Von Recklinghausen ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
  2. Legius syndrome 
    ... loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9): ...
    https://medlineplus.gov/genetics/condition/legius-syndrome - Genetics