Salgado, JR;
Pereira, J;
McEntagart, M;
Mansour, S;
Daubney, P;
Power, R;
Hall, C;
Campos-Xavier, B;
Egas, C;
Froufe, H;
et al.
Salgado, JR; Pereira, J; McEntagart, M; Mansour, S; Daubney, P; Power, R; Hall, C; Campos-Xavier, B; Egas, C; Froufe, H; Simoes, MJ; Gomes, C; Saraiva, JM; Sousa, SB
(2020)
Cardiospondylocarpofacial syndrome as a distinct hereditary connective tissue disorder: novel missense variant in MAP3K7 in two unrelated patients.
In: 23rd Annual Meeting of the Portuguese Society of Human Genetics, MEDICINE, 14-16 November 2019, Coimbra.
SGUL Authors: Mansour, Sahar
| Item Type: |
Conference or Workshop Item
(Poster)
|
| Additional Information: |
Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc.
This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
How to cite this article: Proceedings of the 23rd Annual Meeting of the Portuguese Society of Human Genetics. Medicine 2020;99:9(e19291). |
| Keywords: |
1103 Clinical Sciences, Arthritis & Rheumatology |
| SGUL Research Institute / Research Centre: |
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) |
| Journal or Publication Title: |
MEDICINE |
| ISSN: |
0025-7974 |
| Related URLs: |
|
| Dates: |
| Date | Event |
|---|
| February 2020 | Published | | 27 January 2020 | Accepted |
|
| Publisher License: |
Creative Commons: Attribution 4.0 |
| Projects: |
| Project ID | Funder | Funder ID |
|---|
| CENTRO-01-0247-FEDER-017800 | Centro Portugal Regional Operation Programme | UNSPECIFIED |
|
| Web of Science ID: |
WOS:000525865600177 |
| URI: |
https://openaccess.sgul.ac.uk/id/eprint/111970 |
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