Pubmed ID:
30343942
Year:
2018
Month:
Nov
Volume:
103
Issue:
5
Citation:
Turnpenny PD, Wright MJ, Sloman M, Caswell R, Van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B, DDD Study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE. 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) : 786 - 793(2018) PubMed
Pubmed Link:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=30343942&dopt=Abstract