" /> Basal cell nevus syndrome 1 - CISMeF





Preferred Label : Basal cell nevus syndrome 1;

Symbol : BCNS1;

CISMeF acronym : BCNS; NBCCS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gorlin syndrome; NBCCS; Nevoid basal cell carcinoma syndrome; Multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies; Gorlin-goltz syndrome; BCNS; Basal cell nevus syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SUFU negative regulator of hedgehog signaling gene (SUFU, 607035.0003); Caused by mutation in the patched 2 gene (PTCH2, 603673.0003); Caused by mutation in the patched 1 gene (PTCH1, 601309.0001);

Prefixed ID : #109400;

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27/07/2025


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