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. 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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Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	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:	25 Nov 2024 03:15
URI:	https://orca.cardiff.ac.uk/id/eprint/116682

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