A novel variant in C5ORF42 gene is associated with Joubert syndrome-Reference-Cited by-同舟云学术

A novel variant in C5ORF42 gene is associated with Joubert syndrome

Published:2020-05 Issue:5 Volume:47 Page:4099-4103
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Mardani Rajab,Taghizadeh Eskandar^ORCID,Taheri Forough,Raeisi Mohammadali,Karimzadeh Mohammad Reza,Rostami Daryoush,Ferns Gordon A.,Ghayour-Mobarhan Majid

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11033-020-05465-9.pdf

Reference25 articles.

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3. Brancati F, Dallapiccola B, Valente EM (2010) Joubert syndrome and related disorders. Orphanet J Rare Dis 5(1):20

4. Poretti A, Snow J, Summers AC, Tekes A, Huisman T, Aygun N et al (2017) Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet 54(8):521–529

5. Hickey CL, Sherman JC, Goldenberg P, Kritzer A, Caruso P, Schmahmann JD et al (2018) Cerebellar cognitive affective syndrome: insights from Joubert syndrome. Cereb Ataxias 5:5

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