Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. (Record no. 22496456)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01315 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516134059.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201308s 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.35758 |
| 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 | Meyer, Sascha |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130805 |
| 245 00 - TITLE STATEMENT | |
| Title | Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Mar 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 626-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Letter |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arylsulfatases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chondrodysplasia Punctata |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Diseases, X-Linked |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hemizygote |
| 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 | Male |
| 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 | Radiography |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Löffler, Günther |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gencik, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fries, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Papanagiotou, Panagiotis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oehl-Jaschkowitz, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gortner, Ludwig |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 161A |
| -- | no. 3 |
| -- | p. 626-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.35758">https://doi.org/10.1002/ajmg.a.35758</a> |
| Public note | Available from publisher's website |
No items available.