A de novo GLI3 mutation in a patient with acrocallosal syndrome. (Record no. 22713990)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01881 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516145907.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201604s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.35874 |
| 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 | Speksnijder, Leonie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160415 |
| 245 00 - TITLE STATEMENT | |
| Title | A de novo GLI3 mutation in a patient with acrocallosal syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Jun 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1394-400 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 | Abnormalities, Multiple |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acrocallosal Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acrocephalosyndactylia |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniosynostoses |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diagnosis, Differential |
| 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 | Genetic Association Studies |
| 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 | Kruppel-Like Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nerve Tissue Proteins |
| 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 | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prenatal Diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zinc Finger Protein Gli3 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cohen-Overbeek, Titia E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knapen, Maarten F C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lunshof, Simone M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoogeboom, A Jeannette M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Ouwenland, Ans M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Coo, Irenaneus F M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lequin, Maarten H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bolz, Hanno J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bergmann, Carsten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biesecker, Leslie G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willems, Patrick J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wessels, Marja W |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 161A |
| -- | no. 6 |
| -- | p. 1394-400 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.35874">https://doi.org/10.1002/ajmg.a.35874</a> |
| Public note | Available from publisher's website |
No items available.