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Anthony J. van Essen

University Medical Center Groningen

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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

2018 American Journal of Medical Genetics Part A
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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

2018 American Journal of Human Genetics
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