neurofibromatosis-Noonan syndrome


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neurofibromatosis-Noonan syndrome

An atypical form of neurofibromatosis type I (OMIM:601321) with manifestations of Noonan syndrome, characterised by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay and  bleeding diathesis.

Molecular pathology
Neurofibromatosis-Noonan syndrome is caused by defects in NF1.
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Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which has variable features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS).