Article
Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.
Journal of cutaneous pathology - 1 Aug 2020
Atzmony Lihi, Ugwu Nelson, Zaki Theodore D, Antaya Richard J, Choate Keith A
Abstract excerpt
BACKGROUND: Congenital smooth muscle hamartomas (CSMHs) are benign lesions that share clinical and histopathological features with Becker nevus, a mosaic disorder associated with post-zygotic ACTB mutations. Given the clinical and histopathological overlap between CSMH and Becker nevus, we hypothesized that post-zygotic mutations in ACTB may underlie CSMH. METHODS: Direct sequencing of ACTB gene in affected and...
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