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    1. Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis Annals of Neurology · 2001 · 43 citations
    2. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case Clinical Genetics · 2004 · 26 citations
    3. CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism British Journal of Dermatology · 2025
    4. Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism Authorea (Authorea) · 2022
    5. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    6. A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus American Journal of Medical Genetics Part A · 2025
    7. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    8. Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures Italian Journal of Anatomy and Embryology · 2025
    9. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    10. Montagna Symposium 2014—Skin Aging: Molecular Mechanisms and Tissue Consequences 2015 · 9 citations
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