N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

By Rickman Lisa  

Human Molecular Genetics, Vol. 8, Iss. 6, 1999-06 ,pp. : 971-976

Oxford University Press

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Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

By Norgett Elizabeth E.   Hatsell SarahJ.   Carvajal-Huerta Luis  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2761-2766

Oxford University Press

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Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC )

By Kelsell David P.   Risk Janet M.   Leigh Irene M.   Stevens Howard P.   Ellis Anthony   Hennies Hans C.   Reis André   Weissenbach Jean   Timothy Bishop D.   Spurr Nigel K.   Field John K.  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 857-860

Oxford University Press

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Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

By Himms-Hagen J.  

Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1465-1473

Oxford University Press

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A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families

By Maestrini Elena  

Human Molecular Genetics, Vol. 8, Iss. 7, 1999-07 ,pp. : 1237-1243

Oxford University Press

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