Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. (Record no. 26617681)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01909 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517124606.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1097-0223 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/pd.4965 |
| 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 | Miguet, Marguerite |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170726 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Prenatal diagnosis |
| Date of publication, distribution, etc. | Dec 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1276-1279 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 | Craniofacial Abnormalities |
| 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 Death |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gestational Age |
| 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 | Ichthyosis |
| General subdivision | embryology |
| 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 | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Trichothiodystrophy Syndromes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Xeroderma Pigmentosum Group D Protein |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thevenon, Julien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laugel, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefebvre, Mathilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bourchany, Aurélie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivière, Jean-Baptiste |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Duffourd, Yannis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schaefer, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antal, Maria Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abida, Rosalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weingertner, Anne-Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremer, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vabres, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morice-Picard, Fanny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gonzales, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lipsker, Dan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fraitag, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mandel, Jean-Louis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chelly, Jamel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dollfus, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calmels, Nadège |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Chehadeh, Salima |
| 773 0# - HOST ITEM ENTRY | |
| Title | Prenatal diagnosis |
| Related parts | vol. 36 |
| -- | no. 13 |
| -- | p. 1276-1279 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/pd.4965">https://doi.org/10.1002/pd.4965</a> |
| Public note | Available from publisher's website |
No items available.