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

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...

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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.
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