Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104373
Abstract: Intellectual disability (ID) often co-occurs with other neurologic phenotypes making molecular diagnosis more challenging particularly in consanguineous populations with the co-segregation of more than one ID-related gene in some cases. In this study, we investigated… read more here.
Keywords: microcephaly; intellectual disability; trappc9; large tunisian ... See more keywords
Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1639202
Abstract: ABSTRACT Purpose: We report the clinical features and the mutational analysis in a large Tunisian family with granular corneal dystrophy type I (GCD1). Patients and Methods: Thirty-three members of the Tunisian family underwent a complete… read more here.
Keywords: corneal; r124s mutation; family; tunisian family ... See more keywords
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity
Sign Up to like & getrecommendations! Published in 2022 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2022.2089856
Abstract: Abstract We describe a Tunisian family carrier of the same rare mutation in TARDBP but developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic variability.… read more here.
Keywords: phenotype; tunisian family; tardbp; mutation ... See more keywords
Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ)0-Thalassemia among Tunisian family
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical Biochemistry"
DOI: 10.1177/00045632221134688
Abstract: Background Deletions in the β-globin cluster are uncommon and cause thalassemia (thal) with hereditary persistence of fetal hemoglobin. They constitute a heterogenous group of disorders characterized by absent or reduced synthesis of adult hemoglobin (Hb… read more here.
Keywords: globin cluster; deletion; tunisian family; thalassemia ... See more keywords