Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy

Donnai–Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal uniparental isodiso...

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Autori principali: Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2891749/
https://ncbi.nlm.nih.gov/pubmed/18553518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32381
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