Publication | Open Access

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseHomozygous MutationPathologyMolecular GeneticsDisease Gene IdentificationMedicineInborn Error Of Immunity