6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
6 citations
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March 2009 in “Annals of Saudi Medicine” Finasteride use during early pregnancy may cause limb deformities in babies.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.
October 2014 in “Archives of Disease in Childhood” This case study reported that growth hormone therapy dramatically improved rickets symptoms and growth in three children with vitamin-D dependent rickets type 2 who had not responded to standard treatments.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.