OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin-Reference-Cited by-同舟云学术

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Published:2009-10 Issue:4 Volume:85 Page:465-481
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Coene Karlien L.M.,Roepman Ronald,Doherty Dan,Afroze Bushra,Kroes Hester Y.,Letteboer Stef J.F.,Ngu Lock H.,Budny Bartlomiej,van Wijk Erwin,Gorden Nicholas T.,Azhimi Malika,Thauvin-Robinet Christel,Veltman Joris A.,Boink Mireille,Kleefstra Tjitske,Cremers Frans P.M.,van Bokhoven Hans,de Brouwer Arjan P.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference58 articles.

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

3. Genotypes and phenotypes of Joubert syndrome and related disorders;Valente;Eur. J. Med. Genet.,2008

4. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation;King;Arch. Dis. Child.,1984

5. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation;Valente;Am. J. Hum. Genet.,2003

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