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Article

HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.

Genes - 26 May 2024

Martínez-Romero María Carmen, Hernández-Contreras María Encarnación, Bafalliu-Vidal Juan Antonio, Barreda-Sánchez María, Martínez-Menchón Teresa, Cabello-Chaves Virginia, Guillén-Navarro Encarna

Abstract excerpt

HELIX syndrome (Hypohidrosis-Electrolyte disturbances-hypoLacrimia-Ichthyosis-Xerostomia) (MIM#617671) (ORPHA:528105), described in 2017, is due to an abnormal claudin 10 b protein, secondary to pathogenic CLDN10 variants. So far, only ten families have been described. We aim to describe the phenotype in the first Spanish family identified, highlight the skin anomalies as an important clue, and expand the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38927623
DOI: 10.3390/genes15060687
PMCID: PMC11202757

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HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.PMID 38927623Read ↗

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