Noonan Syndrome-like Disorder With Loose Anagen Hair

About the Disease
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1, also known as mazzanti syndrome, is related to noonan syndrome-like disorder with loose anagen hair and exanthem. An important gene associated with Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 is SHOC2 (SHOC2 Leucine Rich Repeat Scaffold Protein), and among its related pathways/superpathways are Disease and Signal Transduction. Affiliated tissues include skin and brain, and related phenotypes are deep palmar crease and hypoplasia of the corpus callosum

Common Targets
SHOC2 | PPP1CB | PTPN11

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