Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to PRF1 Mutation in Chinese Pediatric Patients-Reference-Cited by-同舟云学术

Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to PRF1 Mutation in Chinese Pediatric Patients

Published:2020-03-04 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Feng Wei-xing,Yang Xin-ying,Li Jiu-wei,Gong Shuai,Wu Yun,Zhang Wei-hua,Han Tong-li,Zhuo Xiu-wei,Ding Chang-hong,Fang Fang

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference23 articles.

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2. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation;Dias;Eur. J. Hum. Genet. EJHG,2013

3. [Analysis of PRF1gene variant in a child with late-onset familial hemophagocytic lymphohistiocytosis type 2 and severe central nervous system disease];Ding;Zhonghua Chuan Zhonghua Yixue yichuanxue zazhi Chin. J. Med. Genet.,2019

4. Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity;Dufourcq-Lagelouse;Am. J. Hum. Genet.,1999

5. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3);Feldmann;Cell,2003

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3. Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene;International Journal of Molecular Sciences;2024-02-27

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