Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome
PYCR1 的复合杂合突变进一步扩大了 De Barsy 综合征的表型谱
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.34326
Dar-Shong Lin, Jui-Hsing Chang, Hsuan-Liang Liu, Chin-Hung Wei, Chun-Yan Yeung, Che-Sheng Ho, Chyong-Hsin Shu, Ming-Fu Chiang, Chih-Kuang Chuang, Yu-Wen Huang, Tsu-Yen Wu, Yuan-Ren Jian, Zon-Darr Huang, Shuan-Pei Lin