Publications by authors named "Meriem El Qabli"
Article Synopsis
- The study aimed to analyze the phenotypic and cytogenetic characteristics of trisomy 13 in a Moroccan population involving 9 diagnosed cases.
- A slight female predominance was observed, with major clinical findings including severe physical and developmental abnormalities such as holoprosencephaly, cleft lip and palate, and congenital heart defects.
- The cytogenetic analysis revealed that most cases had free and homogeneous trisomy 13, which often resulted in early mortality, while one variant, partial trisomy 13 (t(13;18)), had better outcomes with patients surviving longer but still facing significant health issues.
Phenotype and molecular characterization of Wilson's disease in Morocco.
Clin Res Hepatol Gastroenterol
May 2024
Background And Study Aims: In Morocco the prevalence of Wilson disease (WD) and the spectrum of mutations are not known. The aim of the present study was to estimate the prevalence of WD in Morocco, to evaluate the phenotype among a large cohort of WD patients, and to characterize ATP7B variants in a subgroup of WD patients.
Patients And Methods: We collected data from 226 patients admitted to five university hospital centers in Morocco between 2008 and 2020.