Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraski, Romana, Pilz, Daniela T. and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 2018. Missense mutations of the Pro65 residue of PCGF2 cause a recognizable syndrome associated with craniofacial, neurological, cardiovascular, and skeletal features. American Journal of Human Genetics 103 (5) , pp. 786-793. 10.1016/j.ajhg.2018.09.012 |
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Official URL: http://dx.doi.org/10.1016/j.ajhg.2018.09.012
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine |
Publisher: | Elsevier (Cell Press) |
ISSN: | 0002-9297 |
Funders: | Academy of Medical Sciences |
Date of First Compliant Deposit: | 13 November 2018 |
Date of Acceptance: | 22 September 2018 |
Last Modified: | 07 Nov 2023 09:37 |
URI: | https://orca.cardiff.ac.uk/id/eprint/116682 |
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