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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasFrederike L Harms, Alexander J M Dingemans, Maja Hempel, et al.European Journal of Human Genetics : EJHG|March 12, 2015
Redefining the MED13L syndromeAbidemi Adegbola, Luciana Musante, Bert Callewaert, et al.American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.Pageof 4