2 results match your criteria: "Gaziantep Medical Faculty Hospital[Affiliation]"
Clin Rheumatol
November 2024
Department of Internal Medicine, Division of Rheumatology, Uludağ Medical Faculty Hospital, Bursa, Turkey.
Pediatr Allergy Immunol Pulmonol
December 2020
Department of Pediatric Radiology, Gaziantep Medical Faculty Hospital, Gaziantep, Turkey.
Autosomal recessive cutis laxa type IC (ARCL1C) is characterized by cutis laxa accompanied by pulmonary, gastrointestinal, urinary, musculoskeletal involvement caused by biallelic mutations in latent transforming growth factor-beta binding protein 4 () gene. The overall prognosis is poor, and most patients die in infancy because of severe pulmonary emphysema (PE). We aimed to evaluate 3 ARCL1C patients, 2 of whom are still alive and in their childhood period, from 2 unrelated families with novel mutations, to demonstrate the clinical variability of pulmonary involvement.
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