Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the <b><i>MAPK1</i></b> Gene-Reference-Cited by-同舟云学术

Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the MAPK1 Gene

Published:2020 Issue:1 Volume:11 Page:15-23
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Sánchez Ana I.,García-Acero Mary A.,Paredes Angela,Quero Rossi,Ortega Rita I.,Rojas Jorge A.,Herrera Daniel,Parra Miguel,Prieto Karol,Ángel Juana,Rodríguez Luz-Stella,Prieto Juan C.,Franco Manuel

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. Beddow RA, Smith M, Kidd A, Corbett R, Hunter AG. Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour. Eur J Med Genet 54:295-298 (2011).

2. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, et al: 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 82:214-221 (2008).

3. Bengoa-Alonso A, Artigas-Lopez M, Moreno-Igoa M, Cattalli C, Hernandez-Charro B, Ramos-Arroyo MA: Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion. Am J Med Genet A 170:1485-1494 (2016).

4. Blank LJ, Polydefkis MJ, Moore RD, Gebo KA: Herpes zoster among persons living with HIV in the current antiretroviral therapy era. J Acquir Immune Defic Syndr 61:203-207 (2012).

5. Burnside RD: 22q11.21 Deletion syndromes: a review of proximal, central, and distal deletions and their associated features. Cytogenet Genome Res 146:89-99 (2015).

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Multifunctional requirements for ERK1/2 signaling in the development of ganglionic eminence derived glia and cortical inhibitory neurons;2022-08-04

2. Differential Expression of IgM and IgD Discriminates Two Subpopulations of Human Circulating IgM+IgD+CD27+ B Cells That Differ Phenotypically, Functionally, and Genetically;Frontiers in Immunology;2020-05-06