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    1. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations
    2. Adams–Oliver syndrome: new evidence in variable expressivity? International Journal of Dermatology · 2013
    3. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity British Journal of Dermatology · 1997 · 21 citations
    4. Alopecia in a 19-Month-Old Boy Archives of dermatology · 1994 · 2 citations
    5. Alopecia Areata in a Pediatric Patient with Delayed Maternal Manifestation: A Case Report Research Square · 2026
    6. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
    7. [Monilethrix is a hereditary hair shaft disorder]. PubMed · 2017
    8. Clinical cases of Darier-White follicular dyskeratosis Medičnì perspektivi · 2022
    9. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    10. Loose anagen hair syndrome International Journal of Trichology · 2010 · 40 citations
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