Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review. (Record no. 23143293)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01431 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516173128.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201407s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1878-0849 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejmg.2013.09.012 |
| 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 | Chouery, Eliane |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140716 |
| 245 00 - TITLE STATEMENT | |
| Title | Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of medical genetics |
| Date of publication, distribution, etc. | Dec 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 674-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anal Canal |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Cycle Proteins |
| General subdivision | genetics |
| 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 | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Digestive System Abnormalities |
| General subdivision | diagnosis |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Porokeratosis |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RecQ Helicases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Siblings |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guissart, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mégarbané, Hala |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aral, Bernard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nassif, Charbel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mégarbané, André |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of medical genetics |
| Related parts | vol. 56 |
| -- | no. 12 |
| -- | p. 674-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejmg.2013.09.012">https://doi.org/10.1016/j.ejmg.2013.09.012</a> |
| Public note | Available from publisher's website |
No items available.