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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
    11. The clinical spectrum of parathyroid disease Journal of The American Academy of Dermatology · 1981 · 8 citations
    12. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    13. Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype 2025
    14. EVALUATION OF ASSOCIATION OF ANTHROPOMETRIC INDICES WITH STRESS RESPONSE IN PCOS POPULATION INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH · 2020 · 7 citations
    15. CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism? The Journal of Sexual Medicine · 2013 · 29 citations
    16. Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family Acta Scientific Paediatrics · 2023
    17. Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis European Journal of Oral Sciences · 2013 · 20 citations
    18. Diseases of Periocular Hair Survey of Ophthalmology · 2011 · 7 citations
    19. Gene Expression During Drosophila Wing Morphogenesis and Differentiation Genetics · 2005 · 57 citations
    20. The hair shaft: normality, abnormality, and genetics Clinics in Dermatology · 2001 · 11 citations
    21. Characterization of Primary Cilia and Intraflagellar Transport 20 in the Epidermis 2020 · 1 citations
    22. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    23. NUTREASE POWDER - Nature’s Blend of Dietary Protein Nutrients to Maintain Optimum Health in PCOS Disease Asian Journal of Basic Science & Research · 2020
    24. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    25. Androgenetic Alopecia Springer eBooks · 1996 · 8 citations
    26. Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report Clinical Case Reports · 2026
    27. Hair Anomalies in a 6-Year-Old Girl Case reports in clinical medicine · 2016
    28. Monilethrix: A rare hereditary condition Indian Journal of Dermatology · 2013 · 12 citations
    29. Hormonal Therapies for Individuals with Intersex Conditions Treatments in Endocrinology · 2005 · 48 citations
    30. Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome? Pediatric dermatology · 2004 · 13 citations