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Two Siblings with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Due to Parental Gonadal Mosaicism.

Victoria van Renterghem,Catheline Vilain,Koenraad Devriendt,Ingele Casteels,Guillaume Smits,Julie Soblet,Irina Balikova

European journal of medical genetics（2023）

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Key words
Bosch-boonstra-schaaf syndrome,Optic atrophy,Gonadal mosaicism,Intellectual disability
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