Disease

Nicolaides-Baraitser Syndrome

About the Disease
Nicolaides-Baraitser Syndrome, also known as ncbrs, is related to clark-baraitser syndrome and familial isolated trichomegaly. An important gene associated with Nicolaides-Baraitser Syndrome is SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2), and among its related pathways/superpathways are Thermogenesis and Transcription Ligand-dependent activation of the ESR1/SP pathway. Affiliated tissues include skin, testes and testis, and related phenotypes are intellectual disability and global developmental delay

Common Targets
SHANK3 | SMARCA2 | DOCK6 | GRIN2A

疾病靶点研报
Nicolaides-Baraitser Syndrome

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