Publication | Open Access

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

Transcriptional RegulationGenetic DisorderGeneticsGenetic EpidemiologyPathologyMolecular GeneticsExtreme Familial VariabilityPathogenic VariantMedicineVariant InterpretationConradi–hünermann–happle Syndrome