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    Research 30 of 803

    1. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    2. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    3. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    4. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    5. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    6. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    7. The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions International Journal of Molecular Sciences · 2022 · 11 citations
    8. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    9. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    10. Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family Acta Scientific Paediatrics · 2023
    11. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    12. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    13. Hypotrichosis in a child with olmsted syndrome Indian Dermatology Online Journal · 2018
    14. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    15. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    16. Disorders of hair in children Current Paediatrics · 2003
    17. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    18. HAIR AND SYSTEMATIC DISEASE Dermatologic Clinics · 2001 · 58 citations
    19. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    20. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    21. Dermatological diseases from a genetic perspective Medizinische Genetik · 2023
    22. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    23. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    24. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    25. Diseases of Periocular Hair Survey of Ophthalmology · 2011 · 7 citations
    26. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    27. Successful induction of oral tolerance in Netherton syndrome Allergologia et immunopathologia · 2011 · 11 citations
    28. Acquired hypertrichosis lanuginosa: Case report and review of the literature Journal of surgical oncology · 1998 · 38 citations
    29. Short anagen syndrome Journal of The American Academy of Dermatology · 2005 · 37 citations
    30. KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype PLoS Genetics · 2017 · 87 citations