Yazar "Edgünlü, T." için listeleme
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Extracellular matrix protein 1 gene mutation in Turkish patients with lipoid proteinosis
Dertlioğlu, S.; Edgünlü, T.; Şen, D.; Süzek, T. (Wolters Kluwer Medknow Publications, 2019)Background: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness of voice that develop in early childhood. LP is caused by mutation in the extracellular ...