A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. (Record no. 26163575)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01807 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517102851.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201710s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1542-0760 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/bdra.23535 |
| 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 | Goumy, Carole |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171016 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Birth defects research. Part A, Clinical and molecular teratology |
| Date of publication, distribution, etc. | Sep 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 793-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 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 | Agenesis of Corpus Callosum |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 2 |
| 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 | Fetal Growth Retardation |
| 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 | Kruppel-Like Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Small Nuclear |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zinc Finger Protein Gli2 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gay-Bellile, Mathilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salaun, Gaelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kemeny, Stephan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eymard-Pierre, Eleonore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biard, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pebrel-Richard, Celine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vanlieferinghen, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Francannet, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tchirkov, Andrei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laurichesse, Helene |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rouzade, Charles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gouas, Laetitia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vago, Philippe |
| 773 0# - HOST ITEM ENTRY | |
| Title | Birth defects research. Part A, Clinical and molecular teratology |
| Related parts | vol. 106 |
| -- | no. 9 |
| -- | p. 793-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/bdra.23535">https://doi.org/10.1002/bdra.23535</a> |
| Public note | Available from publisher's website |
No items available.