Research Article Details

Article ID: A48235
PMID: 19079403
Source: JNMA J Nepal Med Assoc
Title: Laurence-Moon-Bardet-Biedl syndrome.
Abstract: Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. We report a case of Laurence-Moon-Bardet-Biedl syndrome with typical phenotype in conjunction with nonalcoholic steatohepatitis. The diagnosis had been missed until the patient presented at our hospital.
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