13 citations
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May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
144 citations
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May 1990 in “Journal of the American Academy of Dermatology” 12 citations
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October 2001 in “Pediatric Dermatology” Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
Using calvarial bone for maxilla augmentation is less painful and allows for single-procedure dental implants.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
1 citations
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August 2020 The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
January 2016 in “Case reports in clinical medicine” A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
7 citations
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March 2000 in “CRC Press eBooks” 21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
7 citations
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February 2010 in “British Journal of Dermatology” A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
December 2025 in “Anatomy (International Journal of Experimental and Clinical Anatomy)” Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
Whiskers can form without sensory nerves or Foxd1, thanks to Meis2 in mesenchymal cells.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
6 citations
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August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
18 citations
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January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
August 2025 in “Brazilian Journal of Hair Health” Hair-related body dysmorphic disorder is common in hair loss patients and needs early recognition for proper treatment.
32 citations
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April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
21 citations
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January 2008 in “Indian Journal of Dermatology Venereology and Leprology”