Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis

Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...

Genotype-phenotype correlation in long QT syndrome

Congenital long QT syndrome, caused by a cardiac channelopathy, is a leading cause of sudden cardiac death in the young population. In total, 16 genes have been implicated in this condition, with three genes being the most commonly affected. Long QT syndrome is one of the earliest conditions for which a genotype specific treatment was designed. This genotype-phenotype correlation extends to inv...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

fmf genotype-phenotype correlation in iranian azeri turks: association between m694v/r761h mutation and amyloidosis

objective(s):familial mediterranean fever (fmf), an inherited autosomal recessive disorder, is frequently present among individuals of mediterranean origin. differences in the clinical manifestations of fmf between different ethnic groups have been documented. the aim of the present study was to determine the most common characteristics of fmf and the relationship between clinical findings and ...

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

BACKGROUND Costello syndrome (CS) is a rare multiple congenital abnormality syndrome, associated with failure to thrive and developmental delay. One of the more distinctive features in childhood is the development of facial warts, often nasolabial and in other moist body surfaces. Individuals with CS have an increased risk of malignancy, suggested to be about 17%. Recently, mutations in the HRA...