7 citations
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May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
January 2000 in “Linchuang pifuke zazhi” This case report describes a 58-year-old man with pretibial myxedema and hyperthyroidism, highlighting his cardiac symptoms, exophthalmos, weight loss, and specific dermatological findings over the last four years.
1 citations
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February 2023 This study found a high prevalence of thyrotoxicosis among females in Gujranwala, Pakistan, particularly noting typical symptoms such as goiter, sweating, and menstrual irregularities.