5 citations
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February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.
April 2012 in “Informa Healthcare eBooks” 33 citations
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May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
November 2024 in “JAMA Dermatology” This consensus statement provides expert guidance on prescribing low-dose oral minoxidil for hair loss, noting a lack of representation of pediatric specialists and highlighting areas for future research.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
228 citations
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February 2003 in “Urology” This article discusses the side effects of androgen deprivation therapy for nonmetastatic prostate cancer, highlighting the need for clinical trials to systematically study these effects.
January 2026 in “Journal of Dermatological Treatment” The researchers reported that oral finasteride 1 mg was associated with more frequent reports of sexual adverse events than dutasteride 0.5 mg, particularly after 2012, which may be influenced by the nocebo effect.
42 citations
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August 2017 in “Human Reproduction” This study observed that a longer anterior clitoral anogenital distance (AGDAC) is associated with polycystic ovary syndrome in adult Mediterranean women.
3 citations
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April 1991 in “PEDIATRICS” This reply argues that children with isolated extraordinary daytime frequency do not require extensive testing or aggressive pharmacologic treatments, noting potential negative effects of oxybutynin.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
April 2015 in “Reactions Weekly” May 2013 in “Reactions Weekly” December 2012 in “Reactions Weekly” January 2009 in “Reactions Weekly” January 2014 in “Reactions Weekly” 9 citations
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March 2009 in “Endocrine Practice” June 2014 in “Reactions Weekly” August 2011 in “Reactions Weekly”
3 citations
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August 2022 in “JAAD case reports” This review discusses the emerging evidence for low-dose oral minoxidil in treating various types of alopecia, without providing new clinical results.
May 2026 in “Reactions Weekly” April 2026 in “Reactions Weekly” December 2024 in “Reactions Weekly” November 2014 in “Reactions Weekly” July 2014 in “Reactions Weekly” August 2013 in “Reactions Weekly” January 2013 in “Reactions Weekly” December 2012 in “Reactions Weekly”