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    1. Trichothiodystrophy Archives of Dermatology · 1980 · 175 citations
    2. Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations 2022
    3. Ectodermal Dysplasia: Otolaryngologic Manifestations and Management ˜The œLaryngoscope · 2002 · 37 citations
    4. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    5. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009 · 197 citations
    6. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    7. Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia American Journal of Human Genetics · 2007 · 109 citations
    8. Molecular basis of hypohidrotic ectodermal dysplasia: an update Journal of Applied Genetics · 2015 · 85 citations
    9. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Journal of Human Genetics · 2016 · 30 citations
    10. Hair Shaft Dysplasias International Journal of Dermatology · 1988 · 19 citations
    11. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    12. Trichoscopy in Hair Shaft Disorders Dermatologic Clinics · 2018 · 36 citations
    13. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    14. Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity Pediatric Dermatology · 1986 · 5 citations
    15. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    16. Long-term complications of Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN): the spectrum of chronic problems in patients who survive an episode of SJS/TEN necessitates multidisciplinary follow-up British Journal of Dermatology · 2017 · 105 citations
    17. Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2021 · 2 citations
    18. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    19. Severe Physical Complications among Survivors of Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis Drug Safety · 2017 · 33 citations
    20. HAIR-ROOT ADAPTATION TO MARASMUS IN ANDEAN INDIAN CHILDREN The Lancet · 1969 · 32 citations
    21. Keratin disorders: from gene to therapy 2011 · 109 citations
    22. Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família Anais Brasileiros de Dermatologia · 2004 · 6 citations
    23. Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder Indian dermatology online journal · 2013 · 12 citations
    24. p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials Cell Death Discovery · 2026
    25. Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review International Journal of Trichology · 2012 · 13 citations
    26. Microneedles as the technique of drug delivery enhancement in diverse organs and tissues Journal of Controlled Release · 2017 · 140 citations
    27. Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome Journal of Plastic Surgery and Hand Surgery · 2013 · 4 citations
    28. Ophthalmologic Comorbidities in Alopecia Areata Journal of Clinical Medicine · 2025
    29. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    30. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations