✦ LIBER ✦

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

✍ Scribed by Bellus, Gary A.; Gaudenz, Karin; Zackai, Elaine H.; Clarke, Lome A.; Szabo, Jinny; Francomano, Clair A.; Muenke, Maximilian

Book ID: 109918297
Publisher: Nature Publishing Group
Year: 1996
Tongue: English
Weight: 426 KB
Volume: 14
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1096-174

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ocular anterior chamber dysgenesis in cr

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

✍ Okajima, Kazuki; Robinson, Luther K.; Hart, Meeghan A.; Abuelo, Dianne N.; Cowan 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB 👁 2 views

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

Mutations in the fibroblast growth facto

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

✍ Reardon, William; Winter, Robin M.; Rutland, Paul; Pulleyn, Louise J.; Jones, Ba 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 698 KB

A common mutation in the fibroblast grow

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

✍ Muenke, Maximilian; Schell, Ute; Hehr, Andreas; Robin, Nathaniel H.; Losken, H. 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 568 KB

Trp290Cys mutation in exon IIIa of the f

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome

✍ Marco Tartaglia; Sonia Valeri; Francesco Velardi; Concezio Di Rocco; P. A. Batta 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 157 KB

Two common mutations 934C to G and 937C

Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome

✍ Fuu-Jen Tsai; Wuh-Liang Hwu; Shuan-Pei Lin; Jan-Gowth Chang; Tso-Ren Wang; Chang 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 184 KB

Premature calvarial synostosis and epide

Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3

✍ Roscioli, T. ;Flanagan, S. ;Mortimore, R.J. ;Kumar, P. ;Weedon, D. ;Masel, J. ;L 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 499 KB 👁 2 views