Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrom...
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
About this item
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Author / Creator
Valente, Enza Maria , Silhavy, Jennifer L , Brancati, Francesco , Barrano, Giuseppe , Krishnaswami, Suguna Rani , Castori, Marco , Lancaster, Madeline A , Boltshauser, Eugen , Boccone, Loredana , Al-Gazali, Lihadh , Fazzi, Elisa , Signorini, Sabrina , Louie, Carrie M , Bellacchio, Emanuele , Related Disorders Study Group, International Joubert Syndrome , Bertini, Enrico , Dallapiccola, Bruno , Gleeson, Joseph G and International Joubert Syndrome Related Disorders Study Group
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Joubert syndrome–related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the
CEP290
gene in five families with variable neurological, retinal and renal manifestations.
CEP290
...
Alternative Titles
Full title
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Authors, Artists and Contributors
Author / Creator
Silhavy, Jennifer L
Brancati, Francesco
Barrano, Giuseppe
Krishnaswami, Suguna Rani
Castori, Marco
Lancaster, Madeline A
Boltshauser, Eugen
Boccone, Loredana
Al-Gazali, Lihadh
Fazzi, Elisa
Signorini, Sabrina
Louie, Carrie M
Bellacchio, Emanuele
Related Disorders Study Group, International Joubert Syndrome
Bertini, Enrico
Dallapiccola, Bruno
Gleeson, Joseph G
International Joubert Syndrome Related Disorders Study Group
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_864950555
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_864950555
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng1805
