A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involve...
A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement
About this item
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Author / Creator
Li, Qian , Liu, Qianying , Liu, Suwen , Yu, Lichun , Yang, Zhenle , Wang, Cong , Wang, Jing and Sun, Shuzhen
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
Subjects
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Scope and Contents
Contents
Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign", and variable organ involvement (such as eye, kidney, liver, and skeleton). Here, we present a case of JS in a Chinese boy.
An 11-year-old Chinese boy presented with neonatal...
Alternative Titles
Full title
A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_9208151461ac485fb5a84319bcccbbf5
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9208151461ac485fb5a84319bcccbbf5
Other Identifiers
ISSN
1471-2431
E-ISSN
1471-2431
DOI
10.1186/s12887-023-04415-1
