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Dokumenttyp:
journal article 
Autor(en):
Clewing, JM; Fryssira, H; Goodman, D; Smithson, SF; Sloan, EA; Lou, S; Huang, Y; Choi, K; Lücke, T; Alpay, H; André, JL; Asakura, Y; Biebuyck-Gouge, N; Bogdanovic, R; Bonneau, D; Cancrini, C; Cochat, P; Cockfield, S; Collard, L; Cordeiro, I; Cormier-Daire, V; Cransberg, K; Cutka, K; Deschenes, G; Ehrich, JH; Fründ, S; Georgaki, H; Guillen-Navarro, E; Hinkelmann, B; Kanariou, M; Kasap, B; Kilic, SS; Lama, G; Lamfers, P; Loirat, C; Majore, S; Milford, D; Morin, D; Ozdemir, N; Pontz, BF; Proesmans,...    »
 
Titel:
Schimke immunoosseous dysplasia: suggestions of genetic diversity. 
Abstract:
Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD. However, among 72 patients from different families,...    »
 
Zeitschriftentitel:
Hum Mutat 
Jahr:
2007 
Band / Volume:
28 
Heft / Issue:
Seitenangaben Beitrag:
273-83 
Sprache:
eng 
Print-ISSN:
1059-7794 
TUM Einrichtung:
Kinderklinik und Poliklinik