Article
Clinical and molecular features of four families with CLDN10-related HELIX syndrome.
European journal of medical genetics - 1 Dec 2023
Qudair Ahmad, Hussein Maged, Alowain Mohammed, Al-Hassnan Zuhair Nasser, Alfaifi Abdullah, Alfalah Abdullah, Al-Qahtani Mashael, Alkuraya Fowzan S
Abstract excerpt
Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome. HELIX patients often present with heat intolerance and reduced tear secretion. Here, we report on eight new patients (four families) who presented soon after birth with fine scales in the palms and soles and hypohidrosis that was...
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