A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. (Record no. 22035344)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01370 a2200361 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516105553.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201302s 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.35584 |
| 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 | Al-Qattan, Mohammad M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130219 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Oct 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2610-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Enhancer Elements, Genetic |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | Hand Deformities, Congenital |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hedgehog Proteins |
| General subdivision | chemistry |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polydactyly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Radius |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thumb |
| General subdivision | abnormalities |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al Abdulkareem, Ibrahim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al Haidan, Yazied |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al Balwi, Mohammed |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 158A |
| -- | no. 10 |
| -- | p. 2610-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.35584">https://doi.org/10.1002/ajmg.a.35584</a> |
| Public note | Available from publisher's website |
No items available.