6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
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” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
October 2014 in “Archives of Disease in Childhood” Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.