Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? (Record no. 22889905)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01955 a2200577 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516160105.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201310s 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.36021 |
| 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 | Isidor, Bertrand |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20131017 |
| 245 00 - TITLE STATEMENT | |
| Title | Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Aug 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1829-32 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcinosis |
| General subdivision | genetics |
| 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 | Duodenal Obstruction |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dwarfism |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exudates and Transudates |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genital Diseases, Male |
| General subdivision | genetics |
| 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 | Intestinal Atresia |
| 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 | Penis |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 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 | Retinal Telangiectasis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tomography, X-Ray Computed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Meur, Guylène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Conti, Carole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caldagues, Emmanuelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lainey, Elodie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Launay, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leclair, Marc David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Francois, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pichon, Olivier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boisseau, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Migraine, Audrey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keren, Boris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Caignec, Cédric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crow, Yanick J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | David, Albert |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 161A |
| -- | no. 8 |
| -- | p. 1829-32 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.36021">https://doi.org/10.1002/ajmg.a.36021</a> |
| Public note | Available from publisher's website |
No items available.