Publications by authors named "Lauren Kowalski"
Am J Med Genet A
February 2024
Article Synopsis
- A novel homozygous 49.6 kb deletion on chromosome 18q12.1 was identified in dizygotic twins, affecting the DSG3 gene and leading to symptoms consistent with acantholytic blistering of the oral and laryngeal mucosa (ABOLM).
- This condition presents as fragility of the laryngeal and respiratory mucosa, marking it as the second report of this rare autosomal recessive disorder.
- The deletion also involves the DSG2 gene, linked to arrhythmogenic right ventricular dysplasia (ARVD), but neither the twins nor their heterozygous parents show any cardiac issues currently, indicating the need for further studies on how DSG3 loss of function may
