Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

• Main Authors: Zhu Xintong (Author), Zhang Kexin (Author), Wang Junwen (Author), Wang Ziyi (Author), Luo Na (Author), Guo Hong (Author)
• Format: Book
• Published: BMC, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Genodermatoses are a broad group of disorders with specific or non-specific skin-based phenotypes, most of which are monogenic disorders. However, it's a great challenge to make a precise molecular diagnosis because of the clinical heterogeneity. The genetic and clinical het...