User: Guest  Login
Less Searchfields
Simple search
Title:

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Document type:
Journal Article
Author(s):
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Brösse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T; Graham, Robert J; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramak...     »
Abstract:
Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for this genetic locus. Through international collaboration, we identified 17 individuals from 15 families with bi-allelic TECPR2-variants. We systemically reviewed clinical and molecular data from this cohort and 11 cases previously reported. Phenotypes were st...     »
Journal title abbreviation:
Hum Mutat
Year:
2021
Journal volume:
42
Journal issue:
6
Pages contribution:
762-776
Fulltext / DOI:
doi:10.1002/humu.24206
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/33847017
Print-ISSN:
1059-7794
TUM Institution:
Institut für Humangenetik; Klinik und Poliklinik für Kinder- und Jugendmedizin; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
 BibTeX