Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients-Reference-Cited by-同舟云学术

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Published:2010-02-24 Issue:8 Volume:18 Page:872-880
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hoornaert Kristien P,Vereecke Inge,Dewinter Chantal,Rosenberg Thomas,Beemer Frits A,Leroy Jules G,Bendix Laila,Björck Erik,Bonduelle Maryse,Boute Odile,Cormier-Daire Valerie,De Die-Smulders Christine,Dieux-Coeslier Anne,Dollfus Hélène,Elting Mariet,Green Andrew,Guerci Veronica I,Hennekam Raoul C M,Hilhorts-Hofstee Yvonne,Holder Muriel,Hoyng Carel,Jones Kristi J,Josifova Dragana,Kaitila Ilkka,Kjaergaard Suzanne,Kroes Yolande H,Lagerstedt Kristina,Lees Melissa,LeMerrer Martine,Magnani Cinzia,Marcelis Carlo,Martorell Loreto,Mathieu Michèle,McEntagart Meriel,Mendicino Angela,Morton Jenny,Orazio Gabrielli,Paquis Véronique,Reish Orit,Simola Kalle O J,Smithson Sarah F,Temple Karen I,Van Aken Elisabeth,Van Bever Yolande,van den Ende Jenneke,Van Hagen Johanna M,Zelante Leopoldo,Zordania Riina,De Paepe Anne,Leroy Bart P,De Buyzere Marc,Coucke Paul J,Mortier Geert R

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201023.pdf

Reference32 articles.

1. Stickler GB, Belau PG, Farrell FJ et al: Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965; 40: 433–455.

2. Stickler GB, Hughes W, Houchin P : Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. Genet Med 2001; 3: 192–196.

3. Majava M, Hoornaert KP, Bartholdi D et al: A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet A 2007; 143: 258–264.

4. Snead MP, Yates JR : Clinical and molecular genetics of Stickler syndrome. J Med Genet 1999; 36: 353–359.

5. Richards AJ, Laidlaw M, Whittaker J et al: High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. Hum Mutat 2006; 27: 696–704.

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