日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia

先天性全身性终毛症伴或不伴牙龈增生的17q24.2-q24.3染色体拷贝数突变

Sun, Miao; Li, Ning; Dong, Wu; Chen, Zugen; Liu, Qing; Xu, Yiming; He, Guang; Shi, Yongyong; Li, Xin; Hao, Jiajie; Luo, Yang; Shang, Dandan; Lv, Dan; Ma, Fen; Zhang, Dai; Hua, Rui; Lu, Chaoxia; Wen, Yaran; Cao, Lihua; Irvine, Alan D; McLean, W H Irwin; Dong, Qi; Wang, Ming-Rong; Yu, Jun; He, Lin; Lo, Wilson H Y; Zhang, Xue

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

HOXD13 基因突变是 V 型并指和一种新型短指并指综合征的病因

Zhao Xiuli, Sun Miao, Zhao Jin, Leyva J Alfonso, Zhu Hongwen, Yang Wei, Zeng Xuan, Ao Yang, Liu Qing, Liu Guoyang, Lo Wilson H Y, Jabs Ethylin Wang, Amzel L Mario, Shan Xiangnian, Zhang Xue