• 185 Citations
20072019
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Research Output 2007 2019

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Letter
2016
2 Citations (Scopus)

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

Chacón-Camacho, O. F., Sobreira, N., You, J., Pina Aguilar, R. E., Villegas-Ruiz, V. & Zenteno, J. C., 1 Jul 2016, In : American Journal of Medical Genetics. Part A. 170, 7, p. 1934-1937 4 p.

Research output: Contribution to journalLetter

Exome
Frameshift Mutation
Genes
Coloboma
Genetic Databases