Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

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Bibliographic Details
Published in:American journal of human genetics Vol. 103; no. 6; pp. 1054 - 1055
Main Authors: 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-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.
Format: Journal Article
Language:English
Published: United States Elsevier Inc 06-12-2018
Elsevier
Online Access:Get full text
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Description
Bibliography:erratum
ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Correction/Retraction-1
ObjectType-Feature-3
content type line 23
ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2018.11.009