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Entries: 1-3  
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
Authors: Albrecht, Beate; de Brouwer, Arjan P.; Lefeber, Dirk J.; Cremer, Kirsten; Hausser, Ingrid; Rossen, Nick; Wortmann, Saskia B.; Wevers, Ron A.; Kornak, Uwe; Morava, Eva
Date of Publication (YYYY-MM-DD): 2010-10-15
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 11
Start Page: 2916
End Page: 2918
Document Type: Article
ID: 536210.0
Full text / Content available
Mutations in PYCR1 cause cutis laxa with progeroid features
Authors: Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Haußer, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Nature Genetics
Volume: 41
Start Page: 1016
End Page: 1021
Document Type: Article
ID: 447542.0
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation
Authors: Nuber, Ulrike A.; Tinschert, Sigrid; Mundlos, Stefan; Hausser, Ingrid
Date of Publication (YYYY-MM-DD): 2004-03-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 125A
Issue / Number: 3
Start Page: 261
End Page: 266
Document Type: Article
ID: 175330.0
Entries: 1-3  
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