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    1. Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay American Journal of Medical Genetics Part A · 2003 · 5 citations
    2. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis Neuromuscular Disorders · 2016 · 18 citations
    3. Abnormal differentiation of epidermis in transgenic mice constitutively expressing cyclooxygenase-2 in skin Proceedings of the National Academy of Sciences · 2001 · 201 citations
    4. Follicular dysplasia in five Weimaraners Veterinary dermatology · 2002 · 18 citations
    5. Congenital Hypotrichosis with Hair and Dental Ectodermal Features Responsive to Sublingual Minoxidil Clinical and Experimental Dermatology · 2026
    6. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    7. Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy JAAD Case Reports · 2019 · 4 citations
    8. 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
    9. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    10. MICRO-MORPHOMETRIC STUDY OF SKIN IN DEVELOPING HUMAN FETUSES AND ITS CLINICAL RELEVANCE International journal of anatomy and research · 2017 · 1 citations
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