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    Research 481–510 of 1000+

    1. Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene Clinical and Experimental Dermatology · 2003 · 20 citations
    2. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria British Journal of Ophthalmology · 2001 · 20 citations
    3. Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis 2013 · 12 citations
    4. Atrichia with papular lesions International journal of trichology · 2011 · 8 citations
    5. Birt–Hogg–Dubé syndrome Familial cancer · 2013 · 7 citations
    6. Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis Pediatric Dermatology · 2016 · 3 citations
    7. Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Skin research and technology · 2022 · 2 citations
    8. Vitamin D Dependent Rickets Type II with Alopecia Journal of Life Sciences · 2013 · 2 citations
    9. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    10. Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report Clinical Pediatric Endocrinology · 2025
    11. Clouston’s Syndrome-A Case Report Annals of King Edward Medical University · 2021
    12. A Rare Case of Acrodermatitis Enteropathica in a One Year Old Child Journal of evolution of medical and dental sciences · 2020
    13. A rare case of Vitamin D dependent rickets type II: a case report International journal of contemporary pediatrics · 2019
    14. ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT Journal of evolution of medical and dental sciences · 2012
    15. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    16. Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome Anais Brasileiros de Dermatologia · 2015 · 30 citations
    17. Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions Journal of cutaneous pathology · 2012 · 7 citations
    18. Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy JAAD Case Reports · 2019 · 4 citations
    19. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review Quality in Sport · 2026
    20. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    21. Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets International Journal of Contemporary Pediatrics · 2023
    22. Trichothiodystrophy in a child with occult learning disorder International Journal of Trichology · 2013
    23. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    24. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    25. Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus 1997 · 38 citations
    26. Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature International Journal of Dermatology · 2003 · 31 citations
    27. Nonclassic congenital adrenal hyperplasia Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 30 citations
    28. Cutaneous Ultrastructural Features of the Flaky Skin (<i>fsn</i>) Mouse Mutation The Journal of Dermatology · 1995 · 28 citations
    29. <i>De novo</i> mutations in monilethrix Experimental Dermatology · 2003 · 26 citations
    30. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012 · 15 citations