HELIX syndrome

Definition:

HELIX syndrome is characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. It has been reported that mutations in CLDN10 cause HELIX syndrome.

References:

[1]. Smail Hadj-Rabia, et al. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. Genet Med. 2018 Feb;20(2):190-201. [Content Brief]

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