neurofibromatosis type 1-like syndrome

A disorder (OMIM:611431) characterised by cafe au lait macules without neurofibromas or other manifestations of neurofibromatosis type 1. Other features include axillary freckling, macrocephaly, Noonan-like facies, lipomas, learning disabilities and attention deficit-hyperactivity.
Molecular pathology
Caused by defects of SPRED1, which encodes a protein of the sprouty family that is phosphorylated by tyrosine kinase in response to certain growth factors.

单词	neurofibromatosis type 1-like syndrome
释义	neurofibromatosis type 1-like syndrome neurofibromatosis type 1-like syndrome A disorder (OMIM:611431) characterised by cafe au lait macules without neurofibromas or other manifestations of neurofibromatosis type 1. Other features include axillary freckling, macrocephaly, Noonan-like facies, lipomas, learning disabilities and attention deficit-hyperactivity. Molecular pathology Caused by defects of SPRED1, which encodes a protein of the sprouty family that is phosphorylated by tyrosine kinase in response to certain growth factors.
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