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

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