December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
April 2018 in “Journal of Investigative Dermatology” The role of γδT-cells in causing alopecia areata remains unclear.
June 2025 in “V F Snegirev Archives of Obstetrics and Gynecology” A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
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.
October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
October 2024 in “Journal of the Endocrine Society” Clinicians should be aware of alternating thyroid conditions and their treatment.
7 citations
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January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
August 2025 in “International Journal of Cancer” Childhood and adult height, and early immune-related hospitalizations increase testicular cancer risk, while baldness, larger families, and sports reduce it.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.