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Paper Details

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
1
2023
PHF5A, PHF5A LOF variants, PHF5A mRNA, PHF5A variants, SF3B complex, SF3B components, SF3B splicing complex, SF3B1-3, SF3B1-6, SF3B4 LOF variants, SF3B6, congenital malformations, craniofacial abnormalities, developmental delay, developmental disorder, downregulated genes, fibroblasts, growth abnormalities, haploinsufficiency, heterologous cellular system, hypospadias, missense, mutated splicing factor genes, preauricular tags, promoter, start-loss variant, subject, subject cell lines, variant PHF5A mRNAs, wild
Author NameAffiliation
Alexander J M DingemansDonders Institute for Brain, Radboud University Medical Center
Bert B A de VriesDonders Institute for Brain, Radboud University Medical Center
Kerstin KutscheInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf
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