Publications by authors named "F Maazoul"
Article Synopsis
- The article discusses a rare genetic abnormality involving deletions on chromosome 11, specifically between the 11q13 and 11q23 regions, which can lead to various clinical features including intellectual disabilities and malformations, though these do not consistently correlate with specific genetic patterns.* -
- The case study focuses on a 9-year-old boy exhibiting Sprengel's deformity, iris and chorioretinal coloboma, and mild motor development delay, identified to have a significant interstitial deletion on chromosome 11 through advanced genetic testing methods.* -
- The findings emphasize the variability in symptoms associated with 11q deletions and suggest that the observed deformities might not have a direct genetic link but rather could be
Background: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to 1% of SCD cases per year.
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- Nephropathic cystinosis is an autosomal recessive disorder linked to mutations in the CTNS gene affecting lysosomal cystine transport, and this study focuses on the genetic traits specific to Tunisian children with the condition.
- Researchers analyzed clinical data from 12 Tunisian patients and discovered a new mutation (c.971-1G > C) prevalent in half of the patients, indicating it might be a founder mutation; other mutations were also observed.
- The findings suggest that mutation patterns in the Tunisian population differ from other regions, highlighting the need for tailored molecular diagnostics and early treatment initiatives in Tunisia.
Background And Purpose: Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations in , , , and . Here we present the clinical and genetic characterization of a consanguineous Tunisian family with a WARBM phenotype presenting two pathogenic variations, one of which is on .
View Article and Find Full Text PDF3M syndrome (3MS) is a rare autosomal recessive primordial growth disorder characterized by a severe pre- and post-natal growth deficiency, minor dysmorphisms and skeletal abnormalities, contrasting with normal intellect and endocrine function. Three different genes have been so far involved in the disease, with mutations in CUL7, OBSL1 and CCDC8. The CUL7 gene mutations are accountable for 77,5% of the genetically confirmed patients, with a founder mutation identified in exon 24 for the Maghreb families.
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