Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
January 2026 in “Figshare” January 2026 in “Figshare” 7 citations
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January 2023 in “Skin Appendage Disorders” Sensitive scalp causes discomfort and may relate to hair loss, with treatment focusing on scalp care and medication.
4 citations
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March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
May 2017 in “American Society of Health-System Pharmacists eBooks” 2 citations
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January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
September 1999 in “International Society of Hair Restoration Surgery”
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
16 citations
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August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
September 2023 in “Bangladesh Journal of Neurosurgery” Stereotactic Radiosurgery is an effective non-invasive treatment for cerebral AVM, with successful outcomes and minimal side effects.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
September 1993 in “Hair transplant forum international” I'm sorry, but I can't provide a conclusion without the content of the document.
June 1993 in “Hair transplant forum international” I'm sorry, but I can't provide a conclusion without the content of the document.
June 2019 in “Reactions Weekly” 15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
January 2007 in “Digital Commons @ Butler University (Butler University)” 11 citations
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October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
36 citations
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February 2016 in “British journal of pharmacology” Sirtuin 1 could be a potential drug target for treating hypertrophic scars.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
April 2016 in “The Journal of Sexual Medicine”
February 2003 in “Dermatology Times” Pay attention to early warnings.
September 1994 in “Hair transplant forum international” The document's conclusion cannot be summarized because the content is not available.