Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. (Record no. 16115183)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01917 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515015619.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1090-3798 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejpn.2005.10.004 |
| 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 | Verheij, Johanna B G M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060621 |
| 245 00 - TITLE STATEMENT | |
| Title | Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Date of publication, distribution, etc. | Jan 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 11-7 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 | Brain |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Demyelinating Diseases |
| General subdivision | diagnostic imaging |
| 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 | Growth |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High Mobility Group Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hirschsprung Disease |
| General subdivision | diagnostic imaging |
| 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, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle Hypotonia |
| General subdivision | genetics |
| 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 | Neural Conduction |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurologic Examination |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Radiography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | SOXE Transcription Factors |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Waardenburg Syndrome |
| General subdivision | diagnostic imaging |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sival, Deborah A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Hoeven, Johannes H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vos, Yvonne J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meiners, Linda C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brouwer, Oebele F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Essen, Anthonie J |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Related parts | vol. 10 |
| -- | no. 1 |
| -- | p. 11-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejpn.2005.10.004">https://doi.org/10.1016/j.ejpn.2005.10.004</a> |
| Public note | Available from publisher's website |
No items available.