June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
1 citations
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January 2022 in “Clinical dermatology review” A young man's cheek papule was identified as a benign hair follicle tumor using a skin surface microscope.
17 citations
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January 2014 in “Journal of Oral and Maxillofacial Pathology” Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
November 2018 in “Skin appendage disorders” The document concludes that a woman has both Frontal Fibrosing Alopecia and Lichen Simplex Chronicus, a previously unreported combination of conditions.
2 citations
,
January 2008 in “Journal of The American Academy of Dermatology” Trichoscopy is a helpful and quick method to diagnose hair loss without shaving.
30 citations
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June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
3 citations
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January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
1 citations
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January 2023 in “Indian Journal of Dermatology/Indian journal of dermatology” 5% minoxidil can significantly increase hair growth in TRPS patients.
September 2023 in “British Journal of Dermatology” Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
1 citations
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February 1991 in “Journal of Biological Chemistry” 26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
January 2025 in “Dermatology Review” Trichilemmal carcinoma is rare, usually benign after removal, but needs close follow-up due to recurrence risks.
1 citations
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April 2020 in “International Journal of Research in Dermatology” Trichoscopy is a reliable method for diagnosing different types of hair loss.
October 2019 in “Journal of Face Aesthetics” Trichoscopy helps diagnose female hair loss easily.
April 2024 in “Pigment cell & melanoma research” Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
1 citations
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March 2022 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Trichoscopy helps tell apart hair loss due to alopecia areata from trichotillomania in eyebrows.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
June 2026 in “Indian Journal of Postgraduate Dermatology” Trichoscopy helps diagnose unclear hair loss cases effectively.
2 citations
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July 2018 in “Elsevier eBooks” Trichoscopy is a useful tool for diagnosing and managing hair and scalp conditions, often better than traditional methods.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
March 2023 in “Journal of Cosmetic Dermatology” Trichoscopy is effective for diagnosing scalp ACC in darker skin tones.
December 2025 in “Y HOC TP HO CHI MINH” The Trichoscope is a valuable tool for diagnosing and monitoring hair loss conditions.
9 citations
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January 2013 in “Acta dermato-venereologica” The conclusion is that "trichoknesis" should be recognized as a separate condition from trichodynia, characterized by itching instead of pain.
March 2025 in “International Journal of Trichology” Oral minoxidil improved hair thickness in a person with monilethrix.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
7 citations
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January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.