Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. (Record no. 23266900)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02553 a2200757 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516181523.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201505s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/gim.2013.163 |
| 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 | Stewart, Douglas R |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150512 |
| 245 00 - TITLE STATEMENT | |
| Title | Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | Jun 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 448-59 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 | Adaptor Proteins, Signal Transducing |
| 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Neoplasms |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cafe-au-Lait Spots |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 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 | Chromogranins |
| 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 | Fibroma |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | GTP-Binding Protein alpha Subunits, Gs |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intracellular Signaling Peptides and Proteins |
| 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 | Membrane Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurofibromatosis 1 |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurofibromin 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sex Ratio |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brems, Hilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gomes, Alicia G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruppert, Sarah L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Callens, Tom |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williams, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claes, Kathleen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bober, Michael B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hachen, Rachel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaban, Leonard B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Hua |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lin, Angela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McDonald, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Melancon, Serge |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ortenberg, June |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Radtke, Heather B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Samson, Ignace |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saul, Robert A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shen, Joseph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siqveland, Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toler, Tomi L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Maarle, Merel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wallace, Margaret |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williams, Misti |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Legius, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Messiaen, Ludwine |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 16 |
| -- | no. 6 |
| -- | p. 448-59 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/gim.2013.163">https://doi.org/10.1038/gim.2013.163</a> |
| Public note | Available from publisher's website |
No items available.