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    Research 241–270 of 1000+

    1. An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review Heliyon · 2023 · 1 citations
    2. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    3. Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations 2022
    4. Keratins: the hair shaft's backbone revealed Experimental Dermatology · 2015 · 17 citations
    5. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    6. Hair That Is Difficult to Manage in a Hispanic Girl Skin appendage disorders · 2017 · 1 citations
    7. Molecular Genetics of Human Hair Diseases 2008
    8. Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children Applied Microscopy · 2021 · 3 citations
    9. Frequency of Types of Alopecia in a Single-centre Hair Referral Clinic Over a Ten Years Period International Journal of Trichology · 2025
    10. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    11. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    12. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    13. A clinico-epidemiological study of scalp hair loss in children (0–18 years) in Kota Region, South-East Rajasthan Indian Journal of Dermatology · 2019 · 6 citations
    14. Hair shaft disorders in children – An update Indian Dermatology Online Journal · 2023 · 12 citations
    15. Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population Skin Health and Disease · 2025
    16. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    17. Epidermal patterning and induction of different hair types during mouse embryonic development Birth defects research · 2009 · 81 citations
    18. A Review of the Use of Biotin for Hair Loss Skin appendage disorders · 2017 · 78 citations
    19. Hair shaft miniaturization causes stem cell depletion through mechanosensory signals mediated by a Piezo1-calcium-TNF-α axis Cell Stem Cell · 2021 · 23 citations
    20. Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up Chinese Medical Journal · 2006 · 16 citations
    21. Hair follicles modulate skin barrier function Cell Reports · 2024 · 9 citations
    22. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    23. A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome JAAD Case Reports · 2020 · 3 citations
    24. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    25. Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant Genes · 2025
    26. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    27. Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update Journal of Dermatological Science · 2012 · 52 citations
    28. Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism American Journal of Case Reports · 2025
    29. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025
    30. Diseases of Hair 2022 · 2 citations