Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. (Record no. 30600062)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01788 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518083633.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202101s 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.61506 |
| 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 | Acosta-Fernández, Elizabeth |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20210112 |
| 245 00 - TITLE STATEMENT | |
| Title | Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | 05 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1223-1229 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 | Agenesis of Corpus Callosum |
| General subdivision | diagnostic imaging |
| 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 | Craniofacial Abnormalities |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ephrin-B1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| General subdivision | genetics |
| 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 | Hernias, Diaphragmatic, Congenital |
| General subdivision | diagnostic imaging |
| 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 | Male |
| 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 | Skull |
| General subdivision | diagnostic imaging |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zenteno, Juan C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chacón-Camacho, Oscar F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peña-Padilla, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bobadilla-Morales, Lucina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corona-Rivera, Alfredo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romo-Huerta, Carmen O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zepeda-Romero, Luz C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | López-Marure, Eloy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Acosta-León, Jorge |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García-Cruz, Diana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maciel-Cruz, Eric Jonathan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corona-Rivera, Jorge Román |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 182 |
| -- | no. 5 |
| -- | p. 1223-1229 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.61506">https://doi.org/10.1002/ajmg.a.61506</a> |
| Public note | Available from publisher's website |
No items available.