Angela Clara-Hwang
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View article: Advanced human iPSC-based modelling of<i>LMNA</i>-related congenital muscular dystrophy enables development of targeted genetic therapies for muscle laminopathies
Advanced human iPSC-based modelling of<i>LMNA</i>-related congenital muscular dystrophy enables development of targeted genetic therapies for muscle laminopathies Open
LMNA -related congenital muscular dystrophy (L-CMD) is amongst the most severe forms of laminopathies, which are diseases caused by pathogenic variants in the LMNA gene. LMNA encodes the proteins LAMINs A and C, which assemble with LAMIN B…
View article: Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy Open
Our study broadens the geographic scope of CHD2-related phenotypes, providing valuable insights into the prevalence and clinical characteristics of this genetic disorder in previously underrepresented populations.