MYH10 heterozygous variants cause a dominant phenotype associating coloboma and ptosis reminiscent of the Baraitser-Winter syndrome spectrum

Helene Dollfus, Severine Baer, Ariane Kroell-Hermi, Anita Korpioja,Clarisse Delvallee, Samira Secula,Veronique Geoffroy,Elise Schaefer,Christelle Etard, Corinne Stoetzel, Uwe Straehle,Xavier Zanlonghi,Jean Muller,Elisa Rahikkala,Sylvie Friant,Sophie Scheidecker

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE(2023)

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