ALG9 Associated Gillessen-Kaesbach–Nishimura Syndrome (GIKANIS): An Uncommon Aetiology of Enlarged Foetal Kidneys-Reference-Cited by-同舟云学术

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ALG9 Associated Gillessen-Kaesbach–Nishimura Syndrome (GIKANIS): An Uncommon Aetiology of Enlarged Foetal Kidneys

Published:2018-08-04 Issue:4 Volume:5 Page:237-239
ISSN:2348-1153
Container-title:Journal of Fetal Medicine
language:en
Short-container-title:J. Fetal Med.

Author:

Arora Veronica,Shah Nupur,Khatter Sangeeta,Puri Ratna Dua,Kumar Reema,Gupta Pallav,Bijarnia-Mahay Sunita,Verma Ishwar Chander

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/article/10.1007/s40556-018-0183-1/fulltext.html

Reference10 articles.

1. Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013;369:1502–11.

2. Gillessen-Kaesbach G, Meinecke P, Garrett C, et al. New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. Am J Med Genet. 1993;45:511–8.

3. Nishimura G, Nakayama M, Fuke Y. A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. Pediatr Radiol. 1998;28:43–7.

4. Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, et al. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9. Eur J Hum Genet. 2016;24(2):198–207.

5. AlSubhi S, AlHashem A, AlAzami A, Tlili K, AlShahwan S, Lefeber D, et al. Further delineation of the ALG9-CDG phenotype. JIMD Rep. 2016;27:107–12.

Cited by 1 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. ALG9 Mutation Carriers Develop Kidney and Liver Cysts;Journal of the American Society of Nephrology;2019-08-08

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