Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome-Reference-Cited by-同舟云学术

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Published:2005-03 Issue:3 Volume:76 Page:493-504
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Karmous-Benailly Houda,Martinovic Jelena,Gubler Marie-Claire,Sirot Yoann,Clech Laure,Ozilou Catherine,Augé Joëlle,Brahimi Nora,Etchevers Heather,Detrait Eric,Esculpavit Chantal,Audollent Sophie,Goudefroye Géraldine,Gonzales Marie,Tantau Julia,Loget Philippe,Joubert Madeleine,Gaillard Dominique,Jeanne-Pasquier Corinne,Delezoide Anne-Lise,Peter Marie-Odile,Plessis Ghislaine,Simon-Bouy Brigitte,Dollfus Hélène,Le Merrer Martine,Munnich Arnold,Encha-Razavi Férechté,Vekemans Michel,Attié-Bitach Tania

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference53 articles.

1. Meckel syndrome and Dandy Walker malformation;Al-Gazali;Clin Dysmorphol,1996

2. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome;Ansley;Nature,2003

3. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2;Badano;Am J Hum Genet,2003

4. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus;Badano;Hum Mol Genet,2003

5. Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome;Baskin;J Child Neurol,2002

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