Macular and optic nerve hypoplasia in chromosome 2p partial trisomy

<p>The 2p duplication syndrome is a rare clinically heterogeneous disorder that arises from non-recurrent chromosomal rearrangements involving ~6 Mb up to ~90 Mb. The patients are characterized by a wide range of symptoms, including developmental delay, intellectual disability, distinctive fac...

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Detaylı Bibliyografya
Yazar: Eva Roomets (22685299) (author)
Diğer Yazarlar: Reelika Part (22685302) (author), Pille Tammur (22685305) (author), Maris Laan (33667) (author)
Baskı/Yayın Bilgisi: 2025
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