Does a novel mutation of LAMB2 in a multigenerational mennonite family reveal a new phenotypic variant of Pierson syndrome?
This study describes a novel mutation of LAMB2 and further expands the spectrum of eye and renal manifestations associated with defects in the laminin β-2 chain.
The present data do not provide support for the concept that phenotype-specific Hp therapeutics offer differential efficacy in mitigating acute Hb toxicity.