Expanding the phenotype of cerebellar‐facial‐dental...

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American Journal of Medical Genetics Part A 2020 / 09

Expanding the phenotype of cerebellar‐facial‐dental syndrome: Two siblings with a novel variant in BRF1

Valenzuela, Irene, Codina, Marta, Fernández‐Álvarez, Paula, Mur, Pilar, Valle, Laura, Tizzano, Eduardo F., Cuscó, Ivon
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Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61839
Date:
September, 2020
File:
PDF, 727 KB
2020
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