Skip to content

Clinical and Genetic Insights into Angelman Syndrome: A Retrospective Study of 26 Cases in Morocco

Jul 2026 · Journal of Molecular Neuroscience · Vol 76 · 0 citations · 24 references
Medicine

TL;DR

The findings support earlier recognition, comprehensive molecular diagnosis, and improved access to genetic services in resource-limited settings, as well as highlighting delayed diagnosis and limited access to molecular testing.

View source

Similar papers

Review Open access Aug 2026

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome

This study expands the mutational landscape of JS in the Iranian population and underscores the utility of WES as a first-tier diagnostic tool for JS and related ciliopathies.

Sheyda Khalilian, Mohadeseh Fathi, Zahra Farbood et al. · 0 citations
Review Open access Sep 2026

The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.

The cohort highlights novel findings, including the co-occurrence of AD LZTR1-NS with 22q11.2 deletion and two patients with AR NS with features suggestive of schwannomatosis, which expand the clinical spectrum of LZTR1-NS and have important implications for diagnosis, surveillance, and genetic counseling.

H. Jaouadi, Şakir Hicazi, Carolyn R. Raski et al. · 0 citations
Sep 2026

Allgrove syndrome in Colombia: clinical characterization and evidence of a possible founder effect

A highly prevalent AAAS variant suggestive of a possible founder effect was identified in the Paisa population and expanded the phenotypic spectrum and underscore the importance of early genetic testing and systematic multidisciplinary surveillance.

Johana Andrea Botero Hernandez, Eder Donadoni Varela Macias, María Victoria Lopera Cañaveral et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.