Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay
NALCN基因突变会导致一种常染色体隐性遗传综合征,其特征为严重的肌张力低下、语言障碍和认知发育迟缓。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.08.001
Al-Sayed, Moeenaldeen D; Al-Zaidan, Hamad; Albakheet, Albandary; Hakami, Hana; Kenana, Rosan; Al-Yafee, Yusra; Al-Dosary, Mazhor; Qari, Alya; Al-Sheddi, Tarfa; Al-Muheiza, Muhammed; Al-Qubbaj, Wafa; Lakmache, Yamina; Al-Hindi, Hindi; Ghaziuddin, Muhammad; Colak, Dilek; Kaya, Namik