Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype

Rodrigo Tzovenos Starosta, Jessica Tarnowski, Filippo Pinto e. Vairo, Kimiyo Raymond, Graeme Preston, Eva Morava

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Medicine & Life Sciences