Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?
Cathrine E. Gjerulfsen, Rikke S. Møller, Christina Fenger, Trine Bjørg Hammer, Allan Bayat
Topics & Concepts
ProbandMissense mutationMedicineGeneticsGlobal developmental delayCraniofacialBiologyMutationGenePhenotypeFetal and Pediatric Neurological DisordersPrenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalities