Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

• Κύριοι συγγραφείς: Feiyin Zi (Συγγραφέας), Zhen Li (Συγγραφέας), Wanyu Cheng (Συγγραφέας), Xiaoyu Huang (Συγγραφέας), Xunlun Sheng (Συγγραφέας), Weining Rong (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2023-09-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Abstract Purpose To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the phenotypic features. Methods 5 probands with X-linked recessive related eoHM were collected in Ningxia Eye Hospital fr...