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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
Starosta, Rodrigo Tzovenos, Tarnowski, Jessica, Vairo, Filippo Pinto e, Raymond, Kimiyo, Preston, Graeme, Morava, EvaVolume:
63
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2020.103941
Date:
July, 2020
File:
PDF, 295 KB
2020