Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
About this item
Full title
Author / Creator
Hadj-Rabia, Smail , Brideau, Gaelle , Al-Sarraj, Yasser , Maroun, Rachid C , Figueres, Marie-Lucile , Leclerc-Mercier, Stéphanie , Olinger, Eric , Baron, Stéphanie , Chaussain, Catherine , Nochy, Dominique , Taha, Rowaida Z , Knebelmann, Bertrand , Joshi, Vandana , Curmi, Patrick A , Kambouris, Marios , Vargas-Poussou, Rosa , Bodemer, Christine , Devuyst, Olivier , Houillier, Pascal and El-Shanti, Hatem
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
We aimed to identify the genetic cause to a clinical syndrome encompassing hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX syndrome), and to comprehensively delineate the phenotype.
Methods
We performed homozygosity mapping, whole-genome sequencing, gene sequencing, expression stud...
Alternative Titles
Full title
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
Authors, Artists and Contributors
Author / Creator
Brideau, Gaelle
Al-Sarraj, Yasser
Maroun, Rachid C
Figueres, Marie-Lucile
Leclerc-Mercier, Stéphanie
Olinger, Eric
Baron, Stéphanie
Chaussain, Catherine
Nochy, Dominique
Taha, Rowaida Z
Knebelmann, Bertrand
Joshi, Vandana
Curmi, Patrick A
Kambouris, Marios
Vargas-Poussou, Rosa
Bodemer, Christine
Devuyst, Olivier
Houillier, Pascal
El-Shanti, Hatem
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02173103v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02173103v1
Other Identifiers
ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/gim.2017.71
