February 2026 in “Frontiers in Medicine” Trichoscopy can help diagnose early congenital syphilis in newborns.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
3 citations
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November 2015 in “International Journal of Dermatology” Trichostasis spinulosa is common but often underdiagnosed, mainly affecting women's faces.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.
December 2017 in “Springer eBooks” Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
February 2013 in “Journal of The American Academy of Dermatology” Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
14 citations
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May 2014 in “Archives of plastic surgery” The position of the parietal whorl can predict safe donor areas for hair transplants in Korean men with male pattern baldness.
1 citations
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December 2019 in “American journal of ophthalmology. Case reports” A rare skin condition caused droopy and outward-turning eyelids in a patient.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
4 citations
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August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
12 citations
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February 2017 in “Graefe s Archive for Clinical and Experimental Ophthalmology” Gore-Tex is effective for severe congenital ptosis, with the open approach better for no lid crease and the closed approach better for a preserved crease.
June 2018 in “Biomedical Journal of Scientific and Technical Research” Men with lower 2nd to 4th finger ratios tend to have larger sinus volumes.
May 2007 in “Archives of Plastic Surgery” The Frechet flap technique effectively hides scalp surgery scars with good results and minimal issues.
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.
6 citations
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March 2022 in “IET Image Processing” Targeting the narrowest part of the anterior chamber angle may help prevent pupil block in glaucoma.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
2 citations
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November 2024 in “PLoS ONE” Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
1 citations
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September 2021 in “Physiology News” The authors suggest standardizing how the heart's electrical axis is calculated to improve precision and consistency in ECG analysis.
January 2020 in “Research Portal Denmark” A short male anogenital distance may indicate incomplete masculinization due to disrupted androgen action.
13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.