Genetics & Genomics
Mutations in arginine vasopressin gene indicate genotype-phenotype correlation in FNDI
Published in Obesity and Diabetes Week, December 5th, 2005
According to a study from Denmark, "The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by a severe and progressive deficiency of AVP secondary to mutations in the gene encoding the AVP precursor. Whereas a number of studies have investigated the pathogenetic mechanisms behind the disease only few studies have included detailed clinical characterization of the affected patients, thereby making genotype-phenotype correlations difficult."
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