4 citations
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August 2018 in “Journal of pediatric neurology” This article reviews Becker's nevus syndrome, covering its symptoms, causes, and cosmetic treatment options, without presenting new clinical findings.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
32 citations
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April 1994 in “Journal of the American Academy of Dermatology” This report presents the second known case of erythema nodosum without typical associated conditions, which could be linked to mycoplasma infection, although no testing was conducted to confirm this in the patient.
7 citations
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January 2016 in “Case reports in pediatrics” This study reports that antiandrogen medication, specifically 50 mg/day of spironolactone, showed an adequate clinical response in treating breast hypoplasia associated with Becker's nevus syndrome.
56 citations
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April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.