A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy
DCBLD2基因的纯合无义突变是发育迟缓、面部畸形和限制性心肌病的一个潜在病因。
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-021-92026-0
Alhamoudi, Kheloud M; Barhoumi, Tlili; Al-Eidi, Hamad; Asiri, Abdulaziz; Nashabat, Marwan; Alaamery, Manal; Alharbi, Masheal; Alhaidan, Yazeid; Tabarki, Brahim; Umair, Muhammad; Alfadhel, Majid
