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Missense mutations of the Pro65 residue of PCGF2 cause a recognizable syndrome associated with craniofacial, neurological, cardiovascular, and skeletal features

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. 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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Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Elsevier (Cell Press): 6 month embargo
ISSN: 0002-9297
Funders: Academy of Medical Sciences
Date of First Compliant Deposit: 13 November 2018
Date of Acceptance: 22 September 2018
Last Modified: 27 Jun 2019 14:17
URI: http://orca.cf.ac.uk/id/eprint/116682

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