Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2
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RASopathies are a wide group of multisystemic disorders caused by pathogenic variants in genes belonging to the RAS/MAPK pathway. Among these, PPP1CB gene variants cause Noonan syndrome-like disorder with loose anagen hair 2 (NSLAH2), a rare condition with neu... ...
