This study identified novel mutations in the CYP4V2 gene as a cause of BCD. A high carrier frequency for the 15-bp deletion in exon 7 may exist in the Singapore population. Phenotype characterization showed clinical heterogeneity, and age did not correlate with disease severity.

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Although international hospital benchmarking seems to be a rational process of sharing performance data, this case study showed that it is highly dependent on social processes and a learning environment. It can be useful for diagnostics, helping local hospitals to catalyze performance improvements.