Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. By studying multiplex families, we mapped this disorder to chromosome 2q23.3–31.1 and identified LRP...

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Hlavní autoři: Kantarci, Sibel, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Black, Graeme C M, Bieth, Eric, Chassaing, Nicolas, Lacombe, Didier, Devriendt, Koen, Teebi, Ahmad, Loscertales, Maria, Robson, Caroline, Liu, Tianming, MacLaughlin, David T, Noonan, Kristin M, Russell, Meaghan K, Walsh, Christopher A, Donahoe, Patricia K, Pober, Barbara R
Médium: Artigo
Jazyk:Inglês
Vydáno: 2007
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2891728/
https://ncbi.nlm.nih.gov/pubmed/17632512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng2063
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