1 citations
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October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
16 citations
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December 2006 in “Chinese Medical Journal” This case report describes a 12-year-old boy with congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis, highlighting the severe complications and the necessity for early intervention.
9 citations
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August 2021 in “Journal of clinical medicine” This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.
19 citations
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March 2021 in “Experimental and Therapeutic Medicine” This review examines recent literature on isotretinoin's teratogenic effects in both fertile females and males, analyzing its role in causing congenital malformations but provides no new clinical results.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.