82 citations
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July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
3 citations
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October 2001 in “British Journal of Ophthalmology” An isolated episcleral plasmacytoma can mimic episcleritis, making diagnosis challenging.
2 citations
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June 2016 in “Oral Surgery Oral Medicine Oral Pathology and Oral Radiology” Oral lichen planus can appear before lichen planopilaris.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
January 2025 in “International journal of research studies in biosciences” Mitochondrial dysfunction and oxidative stress may play a role in Lichen Planopilaris.
8 citations
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September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
December 2024 in “Indian Journal of Dermatology” Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
19 citations
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March 2011 in “The Journal of Dermatology” A child's rare skin disease was triggered by chickenpox.
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.
15 citations
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July 1975 in “British journal of dermatology/British journal of dermatology, Supplement” Graham-Little syndrome causes scarring hair loss and skin bumps.
October 2025 in “Dermatology Practical & Conceptual” Ultraviolet techniques help identify Grover’s Disease, which may be underdiagnosed in young people and females.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
2 citations
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October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
Enhanced stem cells from the placenta can reduce fat cell formation in eye disease.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.