Paternal uniparental disomy chromosome 14‐like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG‐ and the MEG3‐DMRs: Patient report and genotype–phenotype correlation

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3130-3138

John Wiley & Sons Inc

Access to resources Recommend Favorite

Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis

By Calva-Cerqueira Daniel   Dahdaleh Fadi S.   Woodfield George   Chinnathambi Sathivel   Nagy Peter L.   Larsen-Haidle Joy   Weigel Ronald J.   Howe James R.  

Human Molecular Genetics, Vol. 19, Iss. 23, 2010-12 ,pp. : 4654-4662

Oxford University Press

Access to resources Recommend Favorite

Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome‐Hereditary Hemorrhagic Telangiectasia due to SMAD4

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 8, 2015-08 ,pp. : 1758-1762

John Wiley & Sons Inc

Access to resources Recommend Favorite

PTEN mutation spectrum and genotype–phenotype correlations in Bannayan–Riley–Ruvalcaba syndrome suggest a single entity with Cowden syndrome

By Marsh Debbie J.   Kum Jennifer B.   Lunetta Kathryn L.  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1461-1472

Oxford University Press

Access to resources Recommend Favorite

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan–Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

By Lin A.Y.  

Human Molecular Genetics, Vol. 7, Iss. 3, 1998-03 ,pp. : 507-515

Oxford University Press

Access to resources Recommend Favorite