Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family

被引：5

作者：

Deffert, Christine

Niel, Florence

Mochel, Fanny

Barrey, Catherine

Romana, Claudia

Souied, Eric

Stoetzel, Corinne

Goossens, Michel

Dollfus, Helene

Verloes, Alain

Girodon, Emmanuelle

Gerard-Blanluet, Marion

机构：

[1] Hop Robert Debre, APHP, Dept Med Genet, F-75019 Paris, France

[2] Hop Henri Mondor, APHP, Mol Genet Lab, F-94010 Creteil, France

[3] Hop St Camille, Bry Sur Marne, France

[4] Hop Trousseau, F-75571 Paris, France

[5] CHIC, Creteil, France

[6] Hop Hautepierre, Dept Med Genet, Strasbourg, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 02期

关键词：

D O I：

10.1002/ajmg.a.31585

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：208 / 213

页数：6

共 42 条

[1] Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome [J].

Ansley, SJ ;

Badano, JL ;

Blacque, OE ;

Hill, J ;

Hoskins, BE ;

Leitch, CC ;

Kim, JC ;

Ross, AJ ;

Eichers, ER ;

Teslovich, TM ;

Mah, AK ;

Johnsen, RC ;

Cavender, JC ;

Lewis, RA ;

Leroux, MR ;

Beales, PL ;

Katsanis, N .

NATURE, 2003, 425 (6958) :628-633

[2] Dissection of epistasis in oligogenic Bardet-Biedl syndrome [J].

Badano, JL ;

Leitch, CC ;

Ansley, SJ ;

May-Simera, H ;

Lawson, S ;

Lewis, RA ;

Beales, PL ;

Dietz, HC ;

Fisher, S ;

Katsanis, N .

NATURE, 2006, 439 (7074) :326-330

[3]

BARDET G, 1920, THESIS PARIS

[4]

Beales PL, 1999, J MED GENET, V36, P437

[5] Lifting the lid on Pandora's box: the Bardet-Biedl syndrome [J].

Beales, PL .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2005, 15 (03) :315-323

[6] Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome [J].

Beales, PL ;

Badano, JL ;

Ross, AJ ;

Ansley, SJ ;

Hoskins, BE ;

Kirsten, B ;

Mein, CA ;

Froguel, P ;

Scambler, PJ ;

Lewis, RA ;

Lupski, JR ;

Katsanis, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1187-1199

[7]

Biedl A., 1922, Deutsch Med Wochenschr, V48, P1630

[8]

Biesecker LG, 1996, AM J MED GENET, V65, P76, DOI 10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO

[9]

2-O

[10] Homozygosity mapping with SNP arrays identifies TRIM32 an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11) [J].

Chiang, AP ;

Beck, JS ;

Yen, HJ ;

Tayeh, MK ;

Scheetz, TE ;

Swiderski, RE ;

Nishimura, DY ;

Braun, TA ;

Kim, KYA ;

Huang, J ;

Elbedour, K ;

Carmi, R ;

Slusarski, DC ;

Casavant, TL ;

Stone, EM ;

Sheffield, VC .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (16) :6287-6292

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