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    Research 271–300 of 1000+

    1. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    2. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    3. PSAT097 Patient Preference Research: Preferred Adjunctive Medication Attributes of Adult Patients with Classic Congenital Adrenal Hyperplasia Journal of the Endocrine Society · 2022 · 1 citations
    4. Diffuse congenital hypotrichosis simplex with associated hair shaft fragility Australasian Journal of Dermatology · 2021 · 1 citations
    5. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    6. BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil British Journal of Dermatology · 2025
    7. Giant Congenital Melanocytic Nevus Correction: A Case Report Hair transplant forum international · 2023
    8. Nonclassic Congenital Adrenal Hyperplasia: An Overview Journal of Pediatric Nursing · 2009
    9. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2 British Journal of Dermatology · 1998 · 175 citations
    10. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    11. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. Journal of Medical Genetics · 1994 · 61 citations
    12. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    13. Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique American Journal of Dermatopathology · 1997 · 17 citations
    14. A new type of pachyonychia congenita. PubMed · 2001 · 10 citations
    15. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    16. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    17. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    18. Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma British Journal of Dermatology · 2013 · 2 citations
    19. Pachyonychia congenita: Sporadic onset with mutation analysis Indian dermatology online journal · 2023
    20. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    21. A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions IP Indian journal of clinical and experimental dermatology · 2022
    22. Hypotrichosis congenita of Marie Unna European Journal of Dermatology · 2001
    23. Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women Human Reproduction Update · 2017 · 117 citations
    24. Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013 · 44 citations
    25. Non-classic congenital adrenal hyperplasia Steroids · 2013 · 42 citations
    26. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    27. Treatment of unilateral congenital ptosis Current Opinion in Ophthalmology · 2013 · 33 citations
    28. Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach Frontiers in Endocrinology · 2019 · 30 citations
    29. Ulerythema ophryogenes with multiple congenital anomalies Journal of the American Academy of Dermatology · 1988 · 27 citations
    30. Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis British Journal of Dermatology · 2013 · 23 citations