Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
与主要表现为上睑下垂和眼部缺损的综合征相关的新型MYH10杂合变异体扩展了MYH10相关表型。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01803-2
Scheidecker, Sophie; Bär, Séverine; Kröll-Hermi, Ariane; Delvallée, Clarisse; Rinaldi, Bruno; Korpioja, Anita; Geoffroy, Véronique; Schaefer, Elise; Secula, Samira; Jaeger, Catherine; Stoetzel, Corinne; Kassel, Olivier; Straehle, Uwe; Bertoli-Avella, Aida; Zonic, Emir; Lamouche, Jean-Baptiste; Zanlonghi, Xavier; Etard, Christelle; Muller, Jean; Rahikkala, Elisa; Friant, Sylvie; Dollfus, Hélène