Publications by authors named "Taina Miikkulainen"
Background: Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309).
Methods And Results: We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.