A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family
A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family
About this item
Full title
Author / Creator
Shi, Yuting , Fu, Yimei , Tao, Zhouteng , Yong, Wenjing , Peng, Huirong , Jian, Wenyang , Chen, Gang , Guo, Manhui , Zhao, Yanhua , Yao, Ruojin and Guo, Dewei
Publisher
Singapore: Springer Nature Singapore
Journal title
Language
English
Formats
Publication information
Publisher
Singapore: Springer Nature Singapore
Subjects
More information
Scope and Contents
Contents
Background
Walker-Warburg syndrome (WWS) is a genetically heterogeneous disease that often presents with complex brain and eye malformations and congenital muscular dystrophy. Mutations of the
ISPD
gene have been identified as one of the most frequent causes of WWS.
Objective
The current study aimed to identify the cause of severe co...
Alternative Titles
Full title
A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_10204576
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_10204576
Other Identifiers
ISSN
1976-9571
E-ISSN
2092-9293
DOI
10.1007/s13258-022-01296-z
