Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations

Marcel Nelen(Utrecht University), George W. Padberg(Radboud University Nijmegen)

European Journal of Human Genetics

April 1, 1999

10.1038/sj.ejhg.5200289

Cited by 348

Related Papers

Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A

|Science|1993|1.6k

Presence of Genetic Variants Among Young Men With Severe COVID-19

|JAMA|2020|833

Localization of the gene for Cowden disease to chromosome 10q22–23

|Nature Genetics|1996|670

X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

|PubMed|1993|369

Optical genome mapping identifies a germline retrotransposon insertion in <scp><i>SMARCB1</i></scp> in two siblings with atypical teratoid rhabdoid tumors

|The Journal of Pathology|2021|41