Browsing by Author "Baser, Burak"
Now showing items 1-4 of 4
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A case of weill-marchesani syndrome with a novel mutation and vitamin d deficiency
Yildirim, Malik Ejder; Vural, Ayse; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Baser, Burak (DERMAN MEDICAL PUBL, 2018)Weill-Marchesani syndrome is an inherited connective tissue disorder. It is characterized by various ocular abnormalities and some skeletal problems. It is rarely seen in the world, but the clinical complications are ... -
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Mutation was Detected: A Case Report
Korgali, Elif Unver; Yavuz, Amine; Simsek, Cemile Ece Caglar; Guney, Cengiz; Kurtulgan, Hande Kucuk; Baser, Burak; Atalar, Mehmet Haydar; Ozer, Hatice; Egilmez, Hatice Reyhan (TAYLOR & FRANCIS INC, 2018)Introduction: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although ... -
Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease
Ustaoglu, Melih; Solmaz, Nilgun; Baser, Burak; Kurtulgan, Hande Kucuk; Onder, Feyza (LIPPINCOTT WILLIAMS & WILKINS, 2019)Purpose: To present ocular findings and anterior segment-optical coherence tomography (AS-OCT) imaging findings of 2 cases of fish-eye disease (FED) involving 2 novel genetic variants of the lecithin-cholesterol acyltransferase ...