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

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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

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Williams–Beuren syndrome: a challenge for genotype–phenotype correlations

By Tassabehji M.  

Human Molecular Genetics, Vol. 12, Iss. 2, 2003-10 ,pp. : 229-237

Oxford University Press

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A novel ryanodine receptor mutation and genotype–phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree

By Brown Rosemary L.   Pollock A. Neil  

Human Molecular Genetics, Vol. 9, Iss. 10, 2000-06 ,pp. : 1515-1524

Oxford University Press

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Correlations of genotype and phenotype in hypophosphatasia

By Zurutuza L.  

Human Molecular Genetics, Vol. 8, Iss. 6, 1999-06 ,pp. : 1039-1046

Oxford University Press

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