Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23-Reference-Cited by-同舟云学术

Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23

Published:2015-09 Issue:1 Volume:569 Page:46-50
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Chang Jiazhen,Zhao Lijuan,Chen Chen,Peng Ying,Xia Yan,Tang Guizhi,Bai Ting,Zhang Yanghui,Ma Ruiyu,Guo Ruolan,Mei Libin,Liang Desheng,Cao Qinying,Wu Lingqian

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference27 articles.

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2. Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region;Coppinger;Hum. Mol. Genet.,2009

3. Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—report of two families;Courtens;Am. J. Med. Genet. A,2008

4. Epigenetic mechanisms in cognition;Day;Neuron,2011

5. Distal 22q11.2 microduplication encompassing the BCR gene;Descartes;Am. J. Med. Genet. A,2008

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1. Type II Lissencephaly with chronic epilepsy and behavioral disturbances: A rare case report;Medical Science;2022-07-18

2. Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases;European Journal of Medical Genetics;2022-02

3. The conserved ASTN2/BRINP1 locus at 9q33.1–33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain;Scientific Reports;2021-07-15

4. Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report;BMC Ophthalmology;2020-08-17

5. Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation;Italian Journal of Pediatrics;2019-08-23