在12月22日的Nature Genetics杂志上发表的一项研究中,阿拉巴马大学伯明翰分校的研究人员表明,一个称作LZTR1的基因突变,与神经鞘瘤这种罕见遗传性疾病的发生相关。 生物通报道:在12月22日的Nature Genetics杂志上发表的一项研究中,阿拉巴马大学伯明翰分校(UAB)的研究人员表明,一个称作LZTR1的基因突变,使人更容易患上一种...
目的总结亮氨酸拉链样转录调节因子1(leucine zipper like transcription regulator 1,LZTR1)基因变异所致Noonan综合征(Noonan syndrome, NS)的临床特征及遗传学特点。 方法回顾性分析2021年1月因超声提示胎儿颈项透明层(nuchal translucency, NT)...
LZTR1 geneTP63 geneIn cases of fetal hydrops, searching for an etiology is essential to evaluate the fetal prognosis and propose the most appropriate management.doi:10.1002/ccr3.4624Yannick HurniDepartment of Fetal Medicine CHU Saint-Pierre Brussels BelgiumMartina Marangoni...
Serial MRIs have shown stable imaging findings and the patient is being followed clinically by cardiology, neurology and medical genetics.We identified a novel mutation in the LZTR1 gene, not previously reported in association with NS. This report provides additional evidence to support for the ...
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. Eur. J. Med. Genet. 2017, 60, 93–99. [CrossRef] [PubMed] 27. Pasmant, E.; Parfait, B.; Luscan, A.; Goussard, P.; Briand-Suleau, A.; Laurendeau, I.; Fouve...
Schwannoma of the posterior tibial nerve in a patient with schwannomatosis and a novel mutation of the LZTR1 genedoi:10.1016/j.nrleng.2019.07.005A. Herrero San MartínA. Alcalá-GalianoNeurología (English Edition)