Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. (Record no. 29497603)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01692 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518031011.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201906s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2324-9269 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/mgg3.625 |
| 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 | Chacon-Camacho, Oscar F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190625 |
| 245 00 - TITLE STATEMENT | |
| Title | Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics & genomic medicine |
| Date of publication, distribution, etc. | 05 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e625 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dermoid Cyst |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ectodermal Dysplasia |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | GTP Phosphohydrolases |
| 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 | Lipomatosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mosaicism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurocutaneous Syndromes |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nevus, Sebaceous of Jadassohn |
| General subdivision | genetics |
| 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 | Proto-Oncogene Proteins p21(ras) |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptor, Fibroblast Growth Factor, Type 1 |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lopez-Moreno, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morales-Sanchez, Martha A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hofmann, Enriqueta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pacheco-Quito, Michelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieland, Ilse |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cortes-Gonzalez, Vianney |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Villanueva-Mendoza, Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zenker, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zenteno, Juan Carlos |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics & genomic medicine |
| Related parts | vol. 7 |
| -- | no. 5 |
| -- | p. e625 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/mgg3.625">https://doi.org/10.1002/mgg3.625</a> |
| Public note | Available from publisher's website |
No items available.