Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Por Fraser, Jamie L., Vanderver, Adeline, Yang, Sandra, Chang, Taeun, Cramp, Laura, Vezina, Gilbert, Lichter-Konecki, Uta, Cusmano-Ozog, Kristina P., Smpokou, Patroula, Chapman, Kimberly A., Zand, Dina J.
Publicado no Mol Genet Metab Rep (2014)

An Attenuated Phenotype of Costello Syndrome in Three Unrelated Individuals with a HRAS c.179G>A (p.Gly60Asp) Correlates with Uncommon Functional Consequences

Por Gripp, Karen W., Sol-Church, Katia, Smpokou, Patroula, Graham, Gail E., Stevenson, David A., Hanson, Heather, Viskochil, David H., Baker, Laura C., Russo, Bridget, Gardner, Nick, Stabley, Deborah L., Kolbe, Verena, Rosenberger, Georg
Publicado no Am J Med Genet A (2015)