A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. (Record no. 26765720)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02865 a2200925 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517133120.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201712s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1754-8411 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1242/dmm.026476 |
| 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 | Zazo Seco, Celia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171204 |
| 245 00 - TITLE STATEMENT | |
| Title | A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Disease models & mechanisms |
| Date of publication, distribution, etc. | 02 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 105-118 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adiposity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Audiometry, Pure-Tone |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 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 | Codon, Nonsense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Deaf-Blind Disorders |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Disease Models, Animal |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Drosophila Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Drosophila melanogaster |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dystonia |
| General subdivision | blood |
| 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 | Gene Expression Regulation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Knockdown Techniques |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HEK293 Cells |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lipid Droplets |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Liver |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Locomotion |
| 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 | Motor Activity |
| 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 | Optic Atrophy |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sensory Receptor Cells |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castells-Nobau, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joo, Seol-Hee |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schraders, Margit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Foo, Jia Nee |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Voet, Monique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Velan, S Sendhil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nijhof, Bonnie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oostrik, Jaap |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vrieze, Erik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katana, Radoslaw |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mansoor, Atika |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huynen, Martijn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Szklarczyk, Radek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oti, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tranebjærg, Lisbeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Wijk, Erwin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer-de Gooyert, Jolanda M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siddique, Saadat |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baets, Jonathan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Jonghe, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kazmi, Syed Ali Raza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sadananthan, Suresh Anand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van de Warrenburg, Bart P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khor, Chiea Chuen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Göpfert, Martin C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Qamar, Raheel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schenck, Annette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kremer, Hannie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siddiqi, Saima |
| 773 0# - HOST ITEM ENTRY | |
| Title | Disease models & mechanisms |
| Related parts | vol. 10 |
| -- | no. 2 |
| -- | p. 105-118 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1242/dmm.026476">https://doi.org/10.1242/dmm.026476</a> |
| Public note | Available from publisher's website |
No items available.