Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome
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
- 作者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
- 卷第155卷
- 期第12期
- 印刷ISSN1552-4825
- 电子ISSN1552-4833
- 文件大小385.58KB
- 发表时间2011
- DOI10.1002/ajmg.a.34326
- 页码3095-3099