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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288271	PMC
http://dx.doi.org/10.1016/j.ajhg.2018.11.009	DOI Listing

Publication Analysis

missense mutations

mutations pro65

pro65 residue

residue pcgf2

pcgf2 recognizable

recognizable syndrome

syndrome associated

associated craniofacial

craniofacial neurological

neurological cardiovascular

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