Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
Sabrina Neri, Nuno Maia, Ana María Fortuna, Joana Damásio, Elizabeth Coale, Mary Willis, Paula Jorge, Anne F. Højte, Christina Fenger, Rikke S. Møller, Allan Bayat
Topics & Concepts
MacrocephalyPhenotypeCraniofacialGeneticsIntellectual disabilityGenetic counselingBiologyCompound heterozygosityGenotype-phenotype distinctionGlobal developmental delayCraniofacial abnormalityPalpebral fissureGenotypeMedicineGeneAnatomyFetal and Pediatric Neurological DisordersPrenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalities