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Title:

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

Document type:
Journal Article
Author(s):
Hasselbacher, K; Wiggins, RC; Matejas, V; Hinkes, BG; Mucha, B; Hoskins, BE; Ozaltin, F; Nürnberg, G; Becker, C; Hangan, D; Pohl, M; Kuwertz-Bröking, E; Griebel, M; Schumacher, V; Royer-Pokora, B; Bakkaloglu, A; Nurnberg, P; Zenker, M; Hildebrandt, F
Abstract:
Congenital nephrotic syndrome is clinically and genetically heterogeneous. The majority of cases can be attributed to mutations in the genes NPHS1, NPHS2, and WT1. By homozygosity mapping in a consanguineous family with isolated congenital nephrotic syndrome, we identified a potential candidate region on chromosome 3p. The LAMB2 gene, which was recently reported as mutated in Pierson syndrome (microcoria-congenital nephrosis syndrome; OMIM #609049), was located in the linkage interval. Sequenci...     »
Journal title abbreviation:
Kidney Int
Year:
2006
Journal volume:
70
Journal issue:
6
Pages contribution:
1008-12
Language:
eng
Fulltext / DOI:
doi:10.1038/sj.ki.5001679
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/16912710
Print-ISSN:
0085-2538
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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