Phenotype‐Genotype Correlation in Children with Neurofibromatosis Type 1
Sign Up to like & getrecommendations! Published in 2018 at "Neuropediatrics"
DOI: 10.1055/s-0037-1620239
Abstract: Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ˜1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and… read more here.
Keywords: phenotype genotype; correlation children; genotype correlation; children neurofibromatosis ... See more keywords
Phenotype‐genotype correlation of p.R124S mutation in granular type 1 corneal dystrophy of Tunisian origin
Sign Up to like & getrecommendations! Published in 2018 at "Acta Ophthalmologica"
DOI: 10.1111/aos.13972_134
Abstract: Purpose: We report the clinical features and phenotype‐genotype correlation in a large Tunisian family with granular corneal dystrophy type I. Methods: Twenty‐seven members of the Tunisian family underwent a complete ophthalmologic examination. A histopathological examination… read more here.
Keywords: phenotype genotype; corneal; genotype correlation; corneal dystrophy ... See more keywords
Phenotype-Genotype Correlation in Colorectal Cancer: A Real-Life Study
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DOI: 10.1159/000516009
Abstract: Background and Aims: Colorectal cancer (CRC) is a heterogeneous disease with distinctive genetic pathways, such as chromosomal instability, microsatellite instability and methylator pathway. Our aim was to correlate clinical and genetic characteristics of CRC patients… read more here.
Keywords: phenotype genotype; genotype correlation; colorectal cancer; mutated tumours ... See more keywords