2020
Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas
Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA. Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas. Journal Of Cutaneous Pathology 2020, 47: 681-685. PMID: 32170967, PMCID: PMC7943230, DOI: 10.1111/cup.13683.Peer-Reviewed Original ResearchConceptsCongenital smooth muscle hamartomaSmooth muscle hamartomaBecker's nevusMuscle hamartomaBecker nevus syndromeDirect sequencingHistopathological featuresHistopathological overlapBenign lesionsMosaic disordersPhenotypic spectrumNeviUnaffected tissueAffected tissuesHamartomaPost-zygotic mutationsHemihypertrophyEnrichment assayTissueMutationsACTB gene
2018
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis
Zaki TD, Yoo K, Kassardjian M, Choate KA. A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis. Pediatric Dermatology 2018, 35: e414-e415. PMID: 30152556, PMCID: PMC7903949, DOI: 10.1111/pde.13643.Peer-Reviewed Original Research