1 citations
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November 2001 in “Acc Current Journal Review” Electron Beam Tomography (EBT) is a useful additional test to stress testing for detecting heart disease.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Ezh2 controls skin development by balancing signals for dermal and epidermal growth.
3 citations
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April 2010 in “The American Journal of Dermatopathology” Most people with scarring and nonscarring hair loss show similar D2-40 levels, but some with scarring hair loss have higher levels.
10 citations
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January 1925 in “Archives of Dermatology” Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
36 citations
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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
2 citations
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October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
12 citations
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January 1999 in “Journal of Animal Science” Glucocorticoids and thyroid hormones together are essential for fetal fat development.
197 citations
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June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
2 citations
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July 2023 in “AACE Clinical Case Reports”
22 citations
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February 2010 in “The Veterinary clinics of North America. Small animal practice/Veterinary clinics of North America. Small animal practice” The cause of atypical Cushing's syndrome in dogs, possibly linked to sex hormones, is not yet proven.
7 citations
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April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
3 citations
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March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
December 2020 in “International journal of medical science and clinical invention” Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
3 citations
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July 2015 in “Australasian Journal of Dermatology” A man developed an allergic skin reaction to a rosacea treatment and improved after stopping the medication and receiving allergy-specific care.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
October 2025 in “Indian Dermatology Online Journal” Trichoscopy helped correctly diagnose and treat a scalp and eyebrow fungal infection.
10 citations
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September 2007 in “Pediatrics in Review” Gynecomastia and premature thelarche often resolve naturally but need evaluation to rule out serious issues.
4 citations
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August 2005 in “Clinical Infectious Diseases” The man's symptoms improved after treating his scurvy with high-dose vitamin C.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
3 citations
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March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
1 citations
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April 2021 in “Annals of Otology Rhinology & Laryngology” Surgical removal is advised for large congenital blue nevi due to rare cancer risk.
1 citations
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October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
August 2023 in “Rheumatology” Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.