Literature DB >> 9571289

Costello syndrome with acoustic neuroma and cataract. Is the Costello locus linked to neurofibromatosis type 2 on 22q?

M Suri, C Garrett.   

Abstract

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Year:  1998        PMID： 9571289     DOI： 10.1097/00019605-199804000-00014

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

1.  Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Authors:  B Kerr; M-A Delrue; S Sigaudy; R Perveen; M Marche; I Burgelin; M Stef; B Tang; O B Eden; J O'Sullivan; A De Sandre-Giovannoli; W Reardon; C Brewer; C Bennett; O Quarell; E M'Cann; D Donnai; F Stewart; R Hennekam; H Cavé; A Verloes; N Philip; D Lacombe; N Levy; B Arveiler; G Black
Journal:  J Med Genet       Date:  2006-01-27       Impact factor: 6.318

2.  Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors:  Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal:  Am J Med Genet A       Date:  2019-06-20       Impact factor: 2.802

3.  Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.

Authors:  A Hinek; A C Smith; E M Cutiongco; J W Callahan; K W Gripp; R Weksberg
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025
  3 in total

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