Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes. (Record no. 25180469)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02308 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517045944.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201609s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1365-2133 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/bjd.14073 |
| 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 | Bursztejn, A-C |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160926 |
| 245 00 - TITLE STATEMENT | |
| Title | Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The British journal of dermatology |
| Date of publication, distribution, etc. | Dec 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1505-13 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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 | Aortic Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Autoimmune Diseases of the Nervous System |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chilblains |
| 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 | DEAD-box RNA Helicases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dental Enamel Hypoplasia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | Interferon-Induced Helicase, IFIH1 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lupus Erythematosus, Cutaneous |
| 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 | Metacarpus |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nervous System Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nervous System Malformations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Odontodysplasia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osteoporosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin Diseases, Genetic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tooth Loss |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vascular Calcification |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Briggs, T A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | del Toro Duany, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderson, B H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Sullivan, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williams, S G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bodemer, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fraitag, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gebhard, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leheup, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lemelle, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oojageer, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raffo, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmitt, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rice, G I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hur, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crow, Y J |
| 773 0# - HOST ITEM ENTRY | |
| Title | The British journal of dermatology |
| Related parts | vol. 173 |
| -- | no. 6 |
| -- | p. 1505-13 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/bjd.14073">https://doi.org/10.1111/bjd.14073</a> |
| Public note | Available from publisher's website |
No items available.