Gijs van Santen

We don’t have enough information about this author to calculate their statistics. If you think this is an error let us know.
Learn More
Whole-exome sequencing of a patient with intellectual disability and without recognisable phenotype yielded a mutation in the intron20 splice donor site of CREBBP. Mutations at different positions within the same intron20 splice donor site were observed in three patients clinically suspected as having Rubinstein-Taybi syndrome (RSTS). All mutations were de(More)
  • 1