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Results 1 - 2 of 2 for "Café-au-lait" macules with pulmonary stenosis
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  1. NF1 gene 
    ... 3. Citation on PubMed Dasgupta B, Gutmann DH. Neurofibromatosis 1: closing the GAP between mice and men. Curr ... B, Fahsold R, Mautner VF. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. Hum Mutat. 2002 Mar; ...
    https://medlineplus.gov/genetics/gene/nf1 - Genetics
  2. SPRED1 gene 
    ... loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9): ...
    https://medlineplus.gov/genetics/gene/spred1 - Genetics