Literature DB >> 1951461

Marshall syndrome.

R F Stratton1, B Lee, F Ramirez.   

Abstract

We report on a mother and daughter with Marshall syndrome, with the Robin sequence present in the daughter. Results of our efforts to link this syndrome to a defect in type II collagen are reported. We compare and contrast Marshall syndrome with the Stickler syndrome, and propose that enough phenotypic overlap exists to suggest that they are probably allelic expressions of the same locus.

Entities:  

Mesh：

Substances：

Year:  1991        PMID： 1951461     DOI： 10.1002/ajmg.1320410111

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Authors:  S Annunen; J Körkkö; M Czarny; M L Warman; H G Brunner; H Kääriäinen; J B Mulliken; L Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; I Kaitila; M R Krawczynski; A Latos-Bielenska; S Mukai; B R Olsen; N Shinno; M Somer; M Vikkula; J Zlotogora; D J Prockop; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

Authors:  J Bonaventure; C Philippe; G Plessis; J Vigneron; C Lasselin; P Maroteaux; S Gilgenkrantz
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

3.  Collagen 11a1 is indirectly activated by lymphocyte enhancer-binding factor 1 (Lef1) and negatively regulates osteoblast maturation.

Authors:  Rachel A Kahler; Sorcha M C Yingst; Luke H Hoeppner; Eric D Jensen; David Krawczak; Julia T Oxford; Jennifer J Westendorf
Journal:  Matrix Biol       Date:  2008-01-16       Impact factor: 11.583

4.  Hereditary vitreoretinal dystrophy associated with peripheral neuropathy.

Authors:  A Ettl; S Felber; C Kunze; C Schmidauer; B Utermann; A Daxer; W Göttinger
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-06       Impact factor: 3.117
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.