Recurrent and novel GLTP variants in five patients with nonsyndromic epidermal differentiation disorder: phenotypic and genotypic expansion

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ID: 319177
2026
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Abstract
This study reports four novel and one recurrent biallelic GLTP variants in a new cohort, solidifying its role in nonsyndromic epidermal differentiation disorder (nEDD). The recurrent variant c.58_62del shows a founder effect in the Chinese population. A consistent histopathologic feature of GLTP-related nEDD is cytoplasmic vacuolization of keratinocytes associated with autophagic flux impairment, suggesting a potential pathognomonic sign for this condition.
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openalex_W7166884385 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Zeqiao Zhang, C Chia-Kai Yang, Xingyuan Jiang, Angela Luo, Erin Mathes, Yongfeng Chen, Keith A Choate, Zhimiao Lin, Huijun Wang
Journal the british journal of dermatology
Year 2026
DOI
10.1093/bjd/ljag268
URL
https://doi.org/10.1093/bjd/ljag268
Keywords Keywords not found

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