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    Research 30 of 160

    1. Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities American Journal of Medical Genetics Part A · 2018 · 28 citations
    2. Atractylodes macrocephala Koidz. Stimulates Dermal Papilla Cells to Promote Anagen Entry Associated with GSK3β/β-Catenin Signaling International Journal of Molecular Sciences · 2026
    3. Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome” European journal of pediatrics · 2002 · 5 citations
    4. 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
    5. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    6. Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features American Journal of Medical Genetics Part A · 2018 · 39 citations
    7. A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? Clinical Dysmorphology · 1995 · 9 citations
    8. Unruly hair British Journal of Dermatology · 1985 · 19 citations
    9. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    10. Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities Neuropediatrics · 2012
    11. TLRgeting Evasion of Immune Pathways in Glioblastoma Cell Stem Cell · 2017 · 15 citations
    12. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    13. Trichothiodystrophy with Dysmyelination and Central Osteosclerosis American Journal of Neuroradiology · 2010 · 16 citations
    14. Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report Skin appendage disorders · 2020 · 1 citations
    15. K <sub>ATP</sub> Channels and Cardiovascular Disease Circulation Research · 2013 · 144 citations
    16. Transcutaneous implantation of valproic acid-encapsulated dissolving microneedles induces hair regrowth Biomaterials · 2018 · 68 citations
    17. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
    18. PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS) Anticancer Research · 2018 · 21 citations
    19. Molecular pathology of skin adnexal tumours Histopathology · 2021 · 16 citations
    20. Dermatologic manifestations of endocrine disorders Current Opinion in Pediatrics · 2012 · 11 citations
    21. 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
    22. Differential plasma proteome analysis reveals key proteins associated with insulin resistance in acne vulgaris patients Scientific Reports · 2025
    23. Posters Presented at the 19th Joint Meeting of the International Society of Dermatopathology, March 2–3, 2016, Hilton Crystal City at Washington Reagan National Airport, Arlington, Virginia, USA American Journal of Dermatopathology · 2016
    24. Mucocutaneous Manifestations of Endocrine Disorders John Wiley & Sons, Ltd eBooks · 2013
    25. Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss Cell Stem Cell · 2007 · 688 citations
    26. Physiologic functions of PP2A: Lessons from genetically modified mice Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · 2018 · 87 citations
    27. Fadrozole and finasteride exposures modulate sex steroid- and thyroid hormone-related gene expression in Silurana (Xenopus) tropicalis early larval development General and Comparative Endocrinology · 2009 · 60 citations
    28. Normal Hair Growth in Children Pediatric Dermatology · 1987 · 57 citations
    29. 46,XY DSD due to impaired androgen production 2010 · 54 citations
    30. Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes Diabetes · 2011 · 53 citations