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...

Бүрэн тодорхойлолт

-д хадгалсан:
Номзүйн дэлгэрэнгүй
Үндсэн зохиолч: Eva Roomets (22685299) (author)
Бусад зохиолчид: Reelika Part (22685302) (author), Pille Tammur (22685305) (author), Maris Laan (33667) (author)
Хэвлэсэн: 2025
Нөхцлүүд:
Шошгууд: Шошго нэмэх
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!