Publications by authors named "A M Sankari-Ho"
Article Synopsis
- Genetic mutations in the plectin gene (PLEC) lead to different forms of epidermolysis bullosa simplex (EBS), specifically EBS-MD associated with muscular dystrophy and EBS-PA linked to pyloric atresia, with specific mutations located in different regions of the gene.
- The study aimed to uncover new patient phenotypes of EBS-MD and EBS-PA, identify novel PLEC mutations, and explore genotype-phenotype relationships through patient analysis.
- Findings include diverse EBS-PA cases, the discovery of 11 new PLEC mutations, and insights suggesting that EBS-PA is correlatively associated with distal PLEC mutations, while EBS-MD mutations often implicate
