Fibroblast growth factor receptor (FGFR) mutations have been found in craniosynostosis syndromes with and without limb and/ or dermatologic anomalies. Ocular manifestations of FGFR2 syndromes are reported to include shallow orbits, proptosis, strabismus, and hypertelorism, but no ocular anterior cha
β¦ LIBER β¦
Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis
β Scribed by Shih-hsin Kan; Navaratnam Elanko; David Johnson; Laura Cornejo-Roldan; Jackie Cook; Elsa W. Reich; Susan Tomkins; Alain Verloes; Stephen R.F. Twigg; Sahan Rannan-Eliya; Donna M. McDonald-McGinn; Elaine H. Zackai; Steven A. Wall; Maximilian Muenke; Andrew O.M. Wilkie
- Book ID
- 117853810
- Publisher
- American Society of Human Genetics
- Year
- 2002
- Tongue
- English
- Weight
- 902 KB
- Volume
- 70
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/338758
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Ocular anterior chamber dysgenesis in cr
β
Okajima, Kazuki; Robinson, Luther K.; Hart, Meeghan A.; Abuelo, Dianne N.; Cowan
π
Article
π
1999
π
John Wiley and Sons
π
English
β 59 KB
π 2 views
Mutations in fibroblast growth factor re
β
Nelly Pitteloud; Astrid Meysing; Richard Quinton; James S. Acierno Jr.; Andrew A
π
Article
π
2006
π
Elsevier Science
π
English
β 483 KB
Novel phenotype of craniosynostosis and
β
Emma McCann; Stephen B. Kaye; William Newman; Gail Norbury; Graeme C.M. Black; I
π
Article
π
2005
π
John Wiley and Sons
π
English
β 168 KB
## Abstract Fibroblast growth factor receptor 2 (__FGFR2__) mutations are associated with syndromic and nonβsyndromic craniosynostoses. More recently it has been recognized that FGFR2 may have a role in the development of the anterior chamber of the eye following the finding of a specific __FGFR2__
Endocardial cushion defect in a patient
β
C Schulz; W KreΓ; A SchΓΆmig; R Wessely
π
Article
π
2007
π
John Wiley and Sons
π
English
β 272 KB
Bilateral exophthalmos: Report of a case
β
Fabiola Quintero-Rivera; Julian A Martinez-Agosto
π
Article
π
2010
π
John Wiley and Sons
π
English
β 268 KB
Trp290Cys mutation in exon IIIa of the f
β
Marco Tartaglia; Sonia Valeri; Francesco Velardi; Concezio Di Rocco; P. A. Batta
π
Article
π
1997
π
Springer
π
English
β 157 KB