Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. (Record no. 26392944)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01718 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517113824.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201706s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1399-0004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/cge.12861 |
| 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 | Cohen, J S |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170602 |
| 245 00 - TITLE STATEMENT | |
| Title | Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | May 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 697-707 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 | genetics |
| 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 | Child |
| 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 | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Haploinsufficiency |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| 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 | Mutation, Missense |
| 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 | Repressor Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Srivastava, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Farwell Hagman, K D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shinde, D N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huether, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Darcy, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wallerstein, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Houge, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berland, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monaghan, K G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poretti, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilson, A L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chung, W K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fatemi, A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 91 |
| -- | no. 5 |
| -- | p. 697-707 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/cge.12861">https://doi.org/10.1111/cge.12861</a> |
| Public note | Available from publisher's website |
No items available.