Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. (Record no. 11877864)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01731 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514031739.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200208s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0148-7299 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.10324 |
| 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 | Elliott, Alison M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20020828 |
| 245 00 - TITLE STATEMENT | |
| Title | Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics |
| Date of publication, distribution, etc. | Apr 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 139-48 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 | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Diseases, Developmental |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniofacial Abnormalities |
| General subdivision | pathology |
| 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 | Fatal Outcome |
| 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 | Fetal Death |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fetal Growth Retardation |
| General subdivision | pathology |
| 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 | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gonzales, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoeffel, Jean-Claude |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Merrer, Martine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maroteaux, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Encha-Razavi, Ferechte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joye, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berchel, Colette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fliegel, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aughton, David J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beaudry-Rodgers, Kelly |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hasteh, Farnez |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nerlich, Andreas G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilcox, William R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rimoin, David L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lachman, Ralph S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Freisinger, Peter |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics |
| Related parts | vol. 109 |
| -- | no. 2 |
| -- | p. 139-48 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.10324">https://doi.org/10.1002/ajmg.10324</a> |
| Public note | Available from publisher's website |
No items available.