Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. (Record no. 9258979)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01732 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513124346.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199710s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0022-2593 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmg.34.8.632 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Reardon, W |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19971006 |
| 245 00 - TITLE STATEMENT | |
| Title | Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Aug 1997 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 632-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acrocephalosyndactylia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arginine |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniosynostoses |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibroblast Growth Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proline |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein-Tyrosine Kinases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptor, Fibroblast Growth Factor, Type 3 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Fibroblast Growth Factor |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilkes, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rutland, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pulleyn, L J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malcolm, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dean, J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Evans, R D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jones, B M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hayward, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hall, C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nevin, N C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baraister, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Winter, R M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 34 |
| -- | no. 8 |
| -- | p. 632-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.34.8.632">https://doi.org/10.1136/jmg.34.8.632</a> |
| Public note | Available from publisher's website |
No items available.