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Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome |
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Titel: |
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome |
Auteur: |
Dery, Tania Chatron, Nicolas Alqahtani, Amerh Pugeat, Michel Till, Marianne Edery, Patrick Sanlaville, Damien Schluth-Bolard, Caroline Nicolino, Marc Lesca, Gaetan Putoux, Audrey |
Verschenen in: |
European journal of medical genetics |
Paginering: |
Jaargang 63 () nr. 11 pagina's p. |
Jaar: |
2020 |
Inhoud: |
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Uitgever: |
Elsevier Masson SAS |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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