Homozygosity for a missense mutation in fibulin-5 ( FBLN5 ) results in a severe form of cutis laxa

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Human Molecular Genetics, Vol. 11, Iss. 18, 2002-06 ,pp. : 2113-2118

Oxford University Press

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Further characterization of -related autosomal recessive cutis laxa

By Fischer Björn   Dimopoulou Aikaterini   Egerer Johannes   Gardeitchik Thatjana   Kidd Alexa   Jost Dominik   Kayserili Hülya   Alanay Yasemin   Tantcheva-Poor Iliana   Mangold Elisabeth   Daumer-Haas Cornelia   Phadke Shubha   Peirano Reto   Heusel Julia   Desphande Charu   Gupta Neerja   Nanda Arti   Felix Emma   Berry-Kravis Elisabeth   Kabra Madhulika   Wevers Ron   Maldergem Lionel   Mundlos Stefan   Morava Eva   Kornak Uwe  

Human Genetics, Vol. 131, Iss. 11, 2012-11 ,pp. : 1761-1773

Springer Publishing Company

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Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

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John Wiley & Sons Inc

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An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

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Oxford University Press

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Pathophysiological Mechanisms of Dominant and Recessive KvLQT1 K+ Channel Mutations Found in Inherited Cardiac Arrhythmias

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