Follow-up of two adult brothers with homozygous CEP57...

European Journal of Medical Genetics 2020 / 11 Vol. 63; Iss. 11

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

Dery, Tania, Chatron, Nicolas, Alqahtani, Amerh, Pugeat, Michel, Till, Marianne, Edery, Patrick, Sanlaville, Damien, Schluth-Bolard, Caroline, Nicolino, Marc, Lesca, Gaetan, Putoux, Audrey
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Volume:
63
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2020.104044
Date:
November, 2020
File:
PDF, 3.09 MB
2020
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