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| JACKSON-WEISS-SYNDROME AND CROUZON-SYNDROME ARE ALLELIC WITH MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTOR-2 |
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| Author(s): JABS EW, LI X, SCOTT AF, MEYERS G, CHEN W, ECCLES M, MAO JI, CHARNAS LR, JACKSON CE, JAYE M |
| Source: NATURE GENETICS Volume: 8 Issue: 3 Pages: 275-279 Published: NOV 1994 |
| Times Cited: 306 References: 21 |
| Abstract: Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the tyrosine kinase receptor superfamily, having a high affinity for peptides that signal the transduction pathways for mitogenesis, cellular differentiation and embryogenesis. We now report an FGFR2 mutation in the conserved region of the immunoglobulin IIIc domain in the Jackson-Weiss syndrome family in which the syndrome was originally described. In addition, in four of 12 Crouzon syndrome cases, we identified two new mutations and found two previously described mutations in the same region. |
| Document Type: Article |
| Language: English |
| Reprint Address: JABS, EW (reprint author), JOHNS HOPKINS UNIV, SCH MED, CTR GENET MED, DEPT PEDIAT, 600 N WOLFE ST, BALTIMORE, MD 21287 USA |
Addresses:
1. JOHNS HOPKINS UNIV, SCH MED, CTR GENET MED, DEPT MED, BALTIMORE, MD 21287 USA
2. JOHNS HOPKINS UNIV, SCH MED, CTR GENET MED, DEPT SURG, BALTIMORE, MD 21287 USA
3. UNIV OTAGO, CTR GENE RES, DEPT BIOCHEM, MOLEC CARCINOGENESIS LAB, DUNEDIN, NEW ZEALAND
4. GENOME THERAPEUT CORP, DEPT HUMAN & MOLEC GENET, COLLABORAT RES, WALTHAM, MA 02154 USA
5. NEUROL ASSOCIATES WESTERN COLORADO, GRAND JCT, CO 81501 USA
6. HENRY FORD HOSP, DEPT MED, DETROIT, MI 48202 USA
7. RHONE POULENC RORER RES, COLLEGEVILLE, PA 19426 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PP765 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |