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.
This nationwide study expands the genotype-phenotype spectrum of Sotos and Malan syndromes in Türkiye and supports improved diagnostic and clinical management strategies.
Ceren Yılmaz Uzman, Semra Gürsoy, F. Hazan et al.· Clinical Genetics· 0 citations
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.· Molecular Genetics and Metab...· 0 citations
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.· American Journal of Medical...· 0 citations
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.· Journal of Pediatric Endocri...· 0 citations
The c.394C>G compound heterozygous variants of the MED25 gene probably underlay the pathogenesis of BVSYS in this child, and was predicted to be deleterious by in silico analysis.
Yong Zhao, Nuo Li, Yu Han et al.· Zhonghua yi xue yi chuan xue...· 0 citations