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Entries: 1-3  
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Authors: Walczak-Sztulpa, Joanna; Eggenschwiler, Jonathan; Osborn, Daniel; Brown, Desmond A.; Emma, Francesco; Klingenberg, Claus; Hennekam, Raoul C.; Torre, Giuliano; Garshasbi, Masoud; Tzschach, Andreas; Szczepanska, Malgorzata; Krawczynski, Marian; Zachwieja, Jacek; Zwolinska, Danuta; Beales, Philip L.; Ropers, Hans-Hilger; Latos-Bielenska, Anna; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2010-06-11
Title of Journal: American Journal of Human Genetics
Volume: 86
Issue / Number: 6
Start Page: 949
End Page: 956
Document Type: Article
ID: 536136.0
Chromosome deletions in 13q33-34: Report of four patients and review of the literature
Authors: Walczak-Sztulpa, Joanna; Wisniewska, Marzena; Latos-Bielenska, Anna; Linné, Maja; Kelbova, Christina; Belitz, Britta; Pfeiffer, Lutz; Kalscheuer, Vera M.; Erdogan, Fikret; Kuss, Andreas W.; Ropers, Hans-Hilger; Ullmann, Reinhard; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2008-01-17
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146
Issue / Number: 3
Start Page: 337
End Page: 342
Document Type: Article
ID: 411599.0
Full text / Content available
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
Authors: Budny, Bartlomiej; Chen, Wei; Omran, Heymut; Fliegauf, Manfred; Tzschach, Andreas; Wisniewska, Marzena; Jensen, Lars R.; Raynaud, Martine; Shoichet, Sarah A.; Badura, Magda; Lenzner, Steffen; Latos-Bielenska, Anna; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2006-06-17
Title of Journal: Human Genetics
Volume: 120
Issue / Number: 2
Start Page: 171
End Page: 178
Document Type: Article
ID: 307327.0
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Entries: 1-3  
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