Watson syndrome

Watson syndrome

An atypical form of neurofibromatosis type I (OMIM:193520) which is characterised by the presence of pulmonary stenosis, cafe-au-lait spots and mental retardation.

Molecular pathology
Defects in NF1, which encodes neurofibromin 1 (a protein that stimulates RAS’s GTPase activity), cause Watson syndrome.
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Many patients thought to have LEOPARD syndrome have been recognized to have Watson syndrome, a condition that presents with pulmonary stenosis and inherited lentiginosis but is actually a form of neurofibromatosis type 1 (NF-1).