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    Research 27

    1. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    2. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    3. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    4. Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita Aesthetic Plastic Surgery · 2015 · 4 citations
    5. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations
    6. Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants Frontiers in Genetics · 2023 · 1 citations
    7. A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene Clinical Case Reports · 2025
    8. Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1 Pediatric Dermatology · 2024
    9. Uncombable hair improved by biotin JEADV Clinical Practice · 2023
    10. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    11. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene BMC medical genetics · 2014 · 9 citations
    12. Serially expanded flap use to treat large hairless scalp lesions Archives of Craniofacial Surgery · 2019 · 2 citations
    13. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020 · 1 citations
    14. Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss Cureus · 2025
    15. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    16. A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report Journal of Comprehensive Pediatrics · 2022
    17. TONGUE, RED 2006
    18. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    19. Poster Presentations Australasian Journal of Dermatology · 2021 · 25 citations
    20. Parsing patterns: Emerging roles of tissue self-organization in health and disease Cell · 2024 · 22 citations
    21. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) American Journal of Medical Genetics Part A · 2024 · 21 citations
    22. Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? Diagnostics · 2022 · 1 citations
    23. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    24. Unraveling Translational Insights into Systemic Multi-Organ Toxicity of Cytosine Arabinoside (Ara-C): A Systematic Review of Preclinical Animal Evidence Current Issues in Molecular Biology · 2025
    25. E-Poster Indian Journal of Endocrinology and Metabolism · 2023
    26. Endocrinology Clinical Chemistry and Laboratory Medicine · 2023
    27. Idiopathic hypoparathyroidism with extensive intracranial calcification in children Medicine · 2017 · 3 citations