Identification of A Novel Hemizygous SLC16A2 Nonsense Mutation in Allen-Herndon-Dudley Syndrome

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KOCAAĞA A., YİMENİCİOĞLU S., BAŞ V. N., ÇİLİNGİR O., BİLDİRİCİ Y.

Eskisehir Medical Journal, Eskisehir City Hospital, 2022 (Peer-Reviewed Journal)

• Publication Type: Article / Case Report
• Publication Date: 2022
• Doi Number: 10.48176/esmj.2022.74
• Journal Name: Eskisehir Medical Journal, Eskisehir City Hospital
• Eskisehir Osmangazi University Affiliated: Yes