Yazar "Ceylaner, Gülay" için listeleme
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A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
Mutlu, Mehmet Burak; Çetinkaya, Arda; Koç, Nermin; Ceylaner, Gülay; Ergüner, Bekir; Aydın, Hatip; Karaman, Ali (Elsevier Science Bv, 2016)Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal genitalia and underdeveloped pelvis. Here, we present a fetus ...