Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations-Reference-Cited by-同舟云学术

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Published:2012-05 Issue:5 Volume:90 Page:864-870
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Perrault Isabelle,Saunier Sophie,Hanein Sylvain,Filhol Emilie,Bizet Albane A.,Collins Felicity,Salih Mustafa A.M.,Gerber Sylvie,Delphin Nathalie,Bigot Karine,Orssaud Christophe,Silva Eduardo,Baudouin Véronique,Oud Machteld M.,Shannon Nora,Le Merrer Martine,Roche Olivier,Pietrement Christine,Goumid Jamal,Baumann Clarisse,Bole-Feysot Christine,Nitschke Patrick,Zahrate Mohammed,Beales Philip,Arts Heleen H.,Munnich Arnold,Kaplan Josseline,Antignac Corinne,Cormier-Daire Valérie,Rozet Jean-Michel

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Ciliopathies;Hildebrandt;N. Engl. J. Med.,2011

2. Ciliopathies: an expanding disease spectrum;Waters;Pediatr. Nephrol.,2011

3. SnapShot: Intraflagellar transport;Cole;Cell,2009

4. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy;Beales;Nat. Genet.,2007

5. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene;Walczak-Sztulpa;Am. J. Hum. Genet.,2010

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