- Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic FeaturesEmma Tham
Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden Electronic address
Am J Hum Genet 96:507-13. 2015..The identification of human subjects complements previous work from mice and zebrafish where knockouts of Kat6a/kat6a lead to developmental defects. ..
- Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated casesEmma Tham
Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden
J Clin Endocrinol Metab 92:3389-95. 2007..Multiple endocrine neoplasia type 1 (MEN1) is a tumor syndrome of the parathyroid, endocrine pancreas, and anterior pituitary caused by mutations in the MEN1 gene on 11q13...