A novel contiguous deletion involving NDP,MAOB and EFHC2 gene in a patient with familial Norrie dise...
A novel contiguous deletion involving NDP,MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits
About this item
Full title
Author / Creator
Jia, Bei , Huang, Liping , Chen, Yaoyu , Liu, Siping , Chen, Cuihua , Xiong, Ke , Song, Lanlin , Zhou, Yulai , Yang, Xinping and Zhong, Mei
Publisher
New Delhi: Springer India
Journal title
Language
English
Formats
Publication information
Publisher
New Delhi: Springer India
Subjects
More information
Scope and Contents
Contents
Contiguous microdeletions of the Norrie disease pseudoglioma (
NDP
) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of
NDP
and its neighbouring genes,
MAOA/B...
Alternative Titles
Full title
A novel contiguous deletion involving NDP,MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1989582423
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1989582423
Other Identifiers
ISSN
0022-1333
E-ISSN
0973-7731
DOI
10.1007/s12041-017-0869-5
