CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders-Reference-Cited by-同舟云学术

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Published:2007-07 Issue:1 Volume:81 Page:104-113
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Brancati Francesco,Barrano Giuseppe,Silhavy Jennifer L.,Marsh Sarah E.,Travaglini Lorena,Bielas Stephanie L.,Amorini Maria,Zablocka Dominika,Kayserili Hulya,Al-Gazali Lihadh,Bertini Enrico,Boltshauser Eugen,D'Hooghe Marc,Fazzi Elisa,Fenerci Elif Y.,Hennekam Raoul C.M.,Kiss Andrea,Lees Melissa M.,Marco Elysa,Phadke Shubha R.,Rigoli Luciana,Romano Stephane,Salpietro Carmelo D.,Sherr Elliott H.,Signorini Sabrina,Stromme Petter,Stuart Bernard,Sztriha Laszlo,Viskochil David H.,Yuksel Adnan,Dallapiccola Bruno,Valente Enza Maria,Gleeson Joseph G.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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4. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes;Gleeson;Am J Med Genet A,2004

5. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity;Saar;Am J Hum Genet,1999

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