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Titel:

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Dokumenttyp:
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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; Dêschenes, G; Ehrich, JH; Fründ, S; Georgaki, H; Guillén-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,...     »
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:
3
Seitenangaben Beitrag:
273-83
Sprache:
eng
Volltext / DOI:
doi:10.1002/humu.20432
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/17089404
Print-ISSN:
1059-7794
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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