Publication | Open Access

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

Molecular Diagnostic TechniquesOpitz GbbbBaraitser-winter SyndromesCritical ReviewGenetic DisorderMedicineGeneticsPathogenesisGenetic EpidemiologyMendelian DisorderPathologyMolecular GeneticsDisease Gene IdentificationGenomicsMolecular DiagnosticsVariant Interpretation