A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family
在大近亲家族中,DYM基因中一种新的纯合无义变异是Dyggve-Melchior-Clausen综合征的致病原因。
期刊:Genes
影响因子:2.8
doi:10.3390/genes14020510
Bakar, Abu; Shams, Sulaiman; Bibi, Nousheen; Ullah, Asmat; Ahmad, Wasim; Jelani, Musharraf; Muthaffar, Osama Yousef; Abdulkareem, Angham Abdulrhman; Abujamel, Turki S; Haque, Absarul; Naseer, Muhammad Imran; Khan, Bushra