[HTML][HTML] The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

EA Varga, M Pastore, T Prior, GE Herman… - Genetics in Medicine, 2009 - Elsevier
Purpose To define the prevalence of PTEN mutations in a clinical cohort of pediatric subjects
with autism spectrum disorders (ASDs), developmental delay/mental retardation (DD/MR),
and/or macrocephaly and to assess genotype–phenotype correlations. Methods Medical
records of patients who had clinical PTEN gene sequencing ordered through our institution
between January 1, 2005 and December 31, 2007 were abstracted to confirm genetic test
results and medical diagnoses. Phenotypic information related to the diagnoses, prenatal …