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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
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