Further characterization of -related autosomal recessive cutis laxa

Author： 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  

Publisher： Springer Publishing Company

ISSN： 0340-6717

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

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

By Hu Qirui   Loeys Bart L.   Coucke Paul J.   De Paepe Anne   Mecham Robert P.   Choi Jiwon   Davis Elaine C.   Urban Zsolt  

Human Molecular Genetics, Vol. 15, Iss. 23, 2006-12 ,pp. : 3379-3386

Oxford University Press

Access to resources Recommend Favorite

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

By Tassabehji M.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 1021-1028

Oxford University Press

Access to resources Recommend Favorite

Molecular mechanisms of autosomal recessive hypercholesterolemia

By Cohen J.C.  

Human Molecular Genetics, Vol. 11, Iss. 24, 2002-09 ,pp. : 3019-3030

Oxford University Press

Access to resources Recommend Favorite

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B ( GCMB ) mutations in eight families with autosomal recessive hypoparathyroidism

By Bowl Michael R.   Mirczuk Samantha M.   Grigorieva Irina V.   Piret Sian E.   Cranston Treena   Southam Lorraine   Allgrove Jeremy   Bahl Shailini   Brain Caroline   Loughlin John   Mughal Zulf   Ryan Fiona   Shaw Nick   Thakker Yogini V.   Tiosano Dov   Nesbit M. Andrew   Thakker Rajesh V.  

Human Molecular Genetics, Vol. 19, Iss. 10, 2010-05 ,pp. : 2028-2038

Oxford University Press

Access to resources Recommend Favorite

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3054-3061

John Wiley & Sons Inc

Access to resources Recommend Favorite