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    1. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    2. Congenital hair loss disorders: Rare, but not too rare The Journal of Dermatology · 2011 · 41 citations
    3. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    4. AN UPDATE OF HAIR SHAFT DISORDERS Dermatologic clinics · 1996 · 12 citations
    5. Ptosis in childhood Medicine · 2018 · 15 citations
    6. Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome Journal of Plastic Surgery and Hand Surgery · 2013 · 4 citations
    7. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil Journal of Dermatology · 2020 · 7 citations
    8. Familial congenital generalized hypertrichosis Indian journal of dermatology, venereology, and leprology · 2013 · 1 citations
    9. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
    10. Polarized microscopy in genetic hair disorders: case series 2025
    11. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    12. DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA Balkan Journal of Medical Genetics · 2013 · 3 citations
    13. Hair and Nail Relationship Skinmed · 2005 · 21 citations
    14. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 2015 · 53 citations
    15. Hair Manifestations of Systemic Disease Current Problems in Pediatric and Adolescent Health Care · 2012 · 10 citations
    16. Becker's Nevus Syndrome Journal of pediatric neurology · 2018 · 4 citations
    17. Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant Archives of Pathology & Laboratory Medicine · 2004 · 9 citations
    18. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    19. Prognosis and Management of Congenital Hair Shaft Disorders without Fragility—Part II Pediatric Dermatology · 2016 · 14 citations
    20. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    21. Hair Loss in Children Current problems in dermatology · 2015 · 24 citations
    22. Light microscopy of the hair: A simple tool to "untangle" hair disorders International Journal of Trichology · 2011 · 24 citations
    23. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    24. Hair Loss in Children Elsevier eBooks · 2018
    25. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    26. The eyelash follicle features and anomalies: A review Journal of optometry · 2018 · 27 citations
    27. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    28. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    29. Hair Anomalies in a 6-Year-Old Girl Case reports in clinical medicine · 2016
    30. Platelet-rich Plasma Injection and Lipofilling-assisted Hair Transplantation on Residual Scalp Alopecia Post Aplasia Cutis Congenita Verticis (ACCV) International Journal of Trichology · 2025