Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. (Record no. 21473808)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01823 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516073654.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201209s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2011.275 |
| 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 | Babovic-Vuksanovic, D |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120921 |
| 245 00 - TITLE STATEMENT | |
| Title | Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Jun 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 618-25 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Face |
| General subdivision | abnormalities |
| 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 | Humans |
| 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 | Marfan Syndrome |
| General subdivision | pathology |
| 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 | Nerve Sheath Neoplasms |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurofibromatoses |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pain |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Schwann Cells |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Messiaen, Ludwine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nagel, Christoph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brems, Hilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheithauer, Bernd |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Denayer, Ellen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mao, Rong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sciot, Raf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janowski, Karen M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schuhmann, Martin U |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claes, Kathleen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beert, Eline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garrity, James A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spinner, Robert J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stemmer-Rachamimov, Anat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gavrilova, Ralitza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Calenbergh, Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mautner, Victor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Legius, Eric |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 20 |
| -- | no. 6 |
| -- | p. 618-25 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2011.275">https://doi.org/10.1038/ejhg.2011.275</a> |
| Public note | Available from publisher's website |
No items available.