Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome

Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome

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...

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Bibliographic Details
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: Journal Article
Language:English
Published: 2022
Subjects:
Science::Medicine
Adermatoglyphia
Huriez Syndrome
Online Access:https://hdl.handle.net/10356/162254

Internet

https://hdl.handle.net/10356/162254

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