A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.

Autor: Feng, Biyun1,2 (AUTHOR), Chang, Guoying1,2 (AUTHOR), Zhang, Qianwen1,2 (AUTHOR), Li, Xin1,2 (AUTHOR), Tang, Yijun1,2 (AUTHOR), Gu, Shili1,2 (AUTHOR), Wang, Yirou1,2 (AUTHOR), Wang, Jian3 (AUTHOR), Wang, Xiumin1,2 (AUTHOR) wangxiumin1019@126.com
Zdroj: Molecular Genetics & Genomic Medicine. Jun2022, Vol. 10 Issue 6, p1-7. 7p.
Databáze: Academic Search Ultimate
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