" /> Huriez syndrome - CISMeF





Preferred Label : Huriez syndrome;

Symbol : HRZ;

CISMeF acronym : HRZ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCLEROTYLOSIS; Scleroatrophic and keratotic dermatosis of limbs;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily A, DEAD/H box-containing-1 gene (SMARCAD1, 612761.0003);

Neoplasia : Squamous cell carcinoma (in areas of scleroatrophic skin) G,H;

Prefixed ID : #181600;

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27/07/2025


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