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Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients with Single-Gene BDH1 Duplications

A. A. Kashevarova,M. E. Lopatkina,O. Yu. Vasilyeva,D. A. Fedotov, A. D. Lobanov,E. A. Fonova, I. Z. Zhalsanova,A. A. Zarubin,O. A. Salyukova,E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva,A. A. Agafonova,A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev

MOLECULAR GENETICS & GENOMIC MEDICINE（2025）

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关键词
3q29 deletion syndrome,3q29 duplication syndrome,<italic>BDH1</italic>,minimal critical region,mirrored phenotypes,unique phenotypes
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