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5 / 88 resultsresearch Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
This case study describes a young woman with a unique syndrome combining lamellar ichthyosis, neuroectodermal and mesodermal defects, and hair with trichoschisis and low sulfur content.
research Light microscopy of the hair: A simple tool to "untangle" hair disorders
This review highlights the light microscopic features of various infectious and non-infectious hair conditions and reports no new clinical results.
research In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
This study found that trichothiodystrophy can be diagnosed prenatally in the second trimester using an endoscopically-guided fetal eyebrow biopsy, with sulfur content analysis being the most reliable test.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.
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