Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants. (Record no. 29782010)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01275 a2200361 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518043511.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202001s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1885-5857 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.rec.2019.05.002 |
| 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 | Perin, Francesca |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200106 |
| 245 00 - TITLE STATEMENT | |
| Title | Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Revista espanola de cardiologia (English ed.) |
| Date of publication, distribution, etc. | Nov 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 978-980 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 | Electrocardiography |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Noonan Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 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 | Transcription Factors |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trujillo-Quintero, Juan Pablo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jimenez-Jaimez, Juan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodríguez-Vázquez Del Rey, María Del Mar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monserrat, Lorenzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tercedor, Luis |
| 773 0# - HOST ITEM ENTRY | |
| Title | Revista espanola de cardiologia (English ed.) |
| Related parts | vol. 72 |
| -- | no. 11 |
| -- | p. 978-980 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.rec.2019.05.002">https://doi.org/10.1016/j.rec.2019.05.002</a> |
| Public note | Available from publisher's website |
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