Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome

• Main Authors: Loh, Abigail Y. T., Špoljar, Sanja, Neo, Granville Y. W., Escande-Beillard, Nathalie, Leushacke, Marc, Luijten, Monique N. H., Venkatesh, Byrappa, Bonnard, Carine, van Steensel, Maurice A. M., Hamm, Henning, Carmichael, Andrew, Rajan, Neil, Carney, Thomas J., Reversade, Bruno
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2022
• Subjects: Science::Medicine; Adermatoglyphia; Huriez Syndrome
• Online Access: https://hdl.handle.net/10356/162254
• Institution: Nanyang Technological University

Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and predisposition to cutaneous squamous cell carcinoma (cSCC). We report herein three HRZ families from Croatia, the Netherlands, and Germany. Deep...