Noonan syndrome type 3
Noonan syndrome type 3A relatively common (1:2500 live births) autosomal dominant condition (OMIM:609942) characterised by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay and a bleeding diathesis; it may be associated with juvenile myelomonocytic leukaemia.
Defects in KRAS, which encodes a small GTPase, cause Noonan syndrome type 3.
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