Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. De Jong EM, Douben H, Eussen BH, Felix JF, Wessels M, et al: 5q11.2 deletion in a patient with tracheal agenesis. Eur J Med Genet 18:1265-1268 (2010).
2. Fontana P, Tortora C, Petillo R, Falco M, Miniero M, et al: A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features. Am J Med Genet A 170:2445-2448 (2016).
3. Hirano T, Yasukawa K, Harada H, Taga T, Watanabe Y, et al: Complementary DNA for a novel human interleukin (BSF-2) that induces B lymphocytes to produce immunoglobulin. Nature 324:73-76 (1986).
4. Jaillard S, Andrieux J, Plessis G, Krepischi AC, Lucas J, et al: 5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects. Am J Med Genet A 155A:725-731 (2011).
5. Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, et al: Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. J Med Genet 51:45-54 (2014).
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. 5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome;American Journal of Medical Genetics Part A;2021-07-28
2. A Child with 5q Deletion and Accompanying Chiari 1 Malformation;The Indian Journal of Pediatrics;2020-07-16
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