Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
Am J Hum Genet
.
2018 Dec 6;103(6):1054-1055.
doi: 10.1016/j.ajhg.2018.11.009.
Authors
Peter D Turnpenny
,
Michael J Wright
,
Melissa Sloman
,
Richard Caswell
,
Anthony J van Essen
,
Erica Gerkes
,
Rolph Pfundt
,
Susan M White
,
Nava Shaul-Lotan
,
Lori Carpenter
,
G Bradley Schaefer
,
Alan Fryer
,
A Micheil Innes
,
Kirsten P Forbes
,
Wendy K Chung
,
Heather McLaughlin
,
Lindsay B Henderson
,
Amy E Roberts
,
Karen E Heath
,
Beatriz Paumard-Hernández
,
Blanca Gener
;
DDD study
;
Katherine A Fawcett
,
Romana Gjergja-Juraški
,
Daniela T Pilz
,
Andrew E Fry
PMID:
30526864
PMCID:
PMC6288271
DOI:
10.1016/j.ajhg.2018.11.009
No abstract available
Publication types
Published Erratum