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    Research 361–390 of 1000+

    1. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. Journal of Medical Genetics · 1994 · 61 citations
    2. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    3. Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique American Journal of Dermatopathology · 1997 · 17 citations
    4. A new type of pachyonychia congenita. PubMed · 2001 · 10 citations
    5. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    6. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    7. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    8. Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma British Journal of Dermatology · 2013 · 2 citations
    9. Pachyonychia congenita: Sporadic onset with mutation analysis Indian dermatology online journal · 2023
    10. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    11. Hypotrichosis congenita of Marie Unna European Journal of Dermatology · 2001
    12. 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
    13. 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
    14. Non-classic congenital adrenal hyperplasia Steroids · 2013 · 42 citations
    15. Treatment of unilateral congenital ptosis Current Opinion in Ophthalmology · 2013 · 33 citations
    16. Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach Frontiers in Endocrinology · 2019 · 30 citations
    17. Ulerythema ophryogenes with multiple congenital anomalies Journal of the American Academy of Dermatology · 1988 · 27 citations
    18. Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis British Journal of Dermatology · 2013 · 23 citations
    19. Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II Pediatric Dermatology · 2016 · 14 citations
    20. Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia. Archives of Disease in Childhood · 1996 · 13 citations
    21. A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia Indian Journal of Endocrinology and Metabolism · 2013 · 11 citations
    22. Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia) Journal für Kardiologie (Krause & Pachernegg GmbH) · 2010 · 8 citations
    23. The Effect of Simvastatin on Plasma Steroid Hormone Levels in Metformin-Treated Women with Non-Classic Congenital Adrenal Hyperplasia Experimental and Clinical Endocrinology & Diabetes · 2016 · 7 citations
    24. A newborn presenting with congenital blistering International Journal of Dermatology · 2004 · 7 citations
    25. Plasma levels of C19 steroid glucuronides in pre-menopausal women with non-classical congenital adrenal hyperplasia 1992 · 7 citations
    26. Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment Endocrine · 2025 · 5 citations
    27. Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study Veterinary dermatology · 2018 · 5 citations
    28. Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency BMJ case reports · 2013 · 5 citations
    29. Challenges in treatment of patients with non-classic congenital adrenal hyperplasia Frontiers in Endocrinology · 2022 · 4 citations
    30. Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita Aesthetic Plastic Surgery · 2015 · 4 citations