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Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia

Abstract:

Pontocerebellar hypoplasia (PCH) represents a group of recessive developmental disorders characterized by impaired growth of the pons and cerebellum, which frequently follows a degenerative course. Currently, there are 10 partially overlapping clinical subtypes and 13 genes known mutated in PCH. Here, we report biallelic TBC1D23 mutations in six individuals from four unrelated families manifesting a non-degenerative form of PCH. In addition to reduced volume of pons and cerebellum, affected i...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ajhg.2017.07.015

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Biochemistry
Role:
Author
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Name:
National Institutes of Health
Grant:
R01 NS052455
Publisher:
Cell Press
Journal:
American Journal of Human Genetics More from this journal
Volume:
101
Issue:
3
Pages:
441-450
Publication date:
2017-08-17
Acceptance date:
2017-07-17
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pmid:
28823706
Language:
English
Keywords:
Pubs id:
pubs:724380
UUID:
uuid:f6e9b610-f627-4ff8-b099-624a7efa2a0e
Local pid:
pubs:724380
Source identifiers:
724380
Deposit date:
2019-01-31

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