24 citations
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May 1985 in “The Journal of Clinical Endocrinology & Metabolism” A circulating inhibitor caused insulin resistance, but clomiphene improved symptoms.
1 citations
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January 2015 in “Journal of clinical case reports” KFSD causes scarring hair loss and skin roughness, mainly in males.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
29 citations
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
3 citations
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January 2017 in “Journal of cosmetology & trichology” The nutritional supplement improved hair quality and reduced hair loss.
3 citations
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June 2011 in “EFSA Journal” Spermidine's effect on hair growth is not proven.
2 citations
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September 2020 in “Schweizer Archiv für Tierheilkunde” Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
29 citations
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June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
2 citations
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January 2023 in “Annals of Dermatology” A hairless patch on a boy's scalp from birth injury improved with minoxidil treatment.
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.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
December 2024 in “NeoReviews” Early diagnosis and management of congenital heart block in mothers with autoimmune conditions are crucial for improving neonatal outcomes.
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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January 2025 in “Reproductive Biology and Endocrinology” Cell-free fat extract may boost IVF success in older women with past failures.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
June 2023 in “Dermatopathology” A woman had a unique skin growth with hair follicle, oil glands, fat cells, spindle cells, and nerve fibers.
March 2025 in “Anatomy & Cell Biology” Hair follicle stem cell secretions may help protect brain cells and improve stroke recovery.
6 citations
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November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
1 citations
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May 2021 in “Journal of the Endocrine Society” A woman developed Cushing syndrome and adrenal insufficiency from using fluticasone and ritonavir together.
19 citations
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July 2017 in “Pediatric Dermatology” Finasteride improves hidradenitis suppurativa in children with no adverse effects.
1 citations
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April 2023 in “Preprints.org” SEFFI is a safe and effective anti-aging treatment with few complications.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
2 citations
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January 2023 in “Dermatologic Therapy” CEFFE injections effectively and safely improve postinflammatory hyperpigmentation.