Publications

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Author Title [ Year(Asc)]
Filters: Author is Del Campo, Miguel and Keyword is Humans  [Clear All Filters]
2015
Garg, A., Kircher, M., Del Campo, M., R Amato, S. & Agarwal, A. K. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A 167A, 1796-806 (2015).
2014
Kaiser, F. J. et al. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 23, 2888-900 (2014).