A splice mutation in <i>RASGRP2</i> gene in the patient with recurrent epistaxis and nasal vascular malformation.

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作者： Zhong-Yu,Shi ^[1] ; Qing-Ling,Lei ^[1] ; Shao-Qin,Duan ^[1] ; Yan,Zhou ^[1] ; Ting-Ting,Cui ^[1] ; Yun-Bi,Lin ^[1] ; Chun-Hui,Yang ^[1] ; Chun-Yan,Song ^[1] ; Chun-Lian,Fang ^[1] ; Xin,Tian ^[1] ; Xian-Wen,Zhang ^[2] ; Ti-Long,Huang ^[1]

作者单位： Department of Hematology, Kunming Children's Hospital, Kunming, China. ^[1] Medical Faculty, Kunming University of Science and Technology, Kunming, China. ^[2]

关键词 BDPLT18 RASGRP2 gene epistaxis vascular malformation

主题词人类(Humans);鼻出血(Epistaxis);女(雌)性(Female);儿童(Child);突变(Mutation);血管畸形(Vascular Malformations);鸟嘌呤核苷酸交换因子类(Guanine Nucleotide Exchange Factors)

DOI 10.1080/09537104.2024.2425664

PMID 39512176

发布时间 2024-11-08

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