A New Unc45a 5'utr Variant in Patients with Aagenaes Syndrome

Turkan Turkut Tan, Yusuf Can Dogan, Zehra Burcu Yilmaz,Enise Avci Durmusalioglu, Ezgi Oguz,Durdugul Emecen Ayyildiz,Esra Isik, Sema Aydogdu,Ozgur Cogulu,Tahir Atik

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2025）

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Key words

aagenaes syndrome,UNC45A,whole-exome sequencing

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