Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis-Reference-Cited by-同舟云学术

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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

Published:2016-01-04 Issue:1 Volume:11 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Kuchinskaya Ekaterina,Grigelioniene Giedre,Hammarsjö Anna,Lee Hye-Ran,Högberg Lotta,Grigelionis Gintautas,Kim Ok-Hwa,Nishimura Gen,Cho Tae-Joon

Funder

National Research Foundation of Korea (KR)

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0380-0

Reference14 articles.

1. Spranger JW, Brill PW, Nishimura G, Superti-Furga A, Unger S. Bone dysplasias; an atlas of genetic disorders of skeletal development. Oxford: Oxford University Press; 2012. p. 732–5.

2. Nishimura G, Kimizuka M, Shiro R, Nii E, Nishiyama M, Kawano T, et al. Ischio-spinal dysostosis: a previously unrecognised combination of malformations. Pediatr Radiol. 1999;29(3):212–7. doi: 10.1007/s002470050574 .

3. Spranger J, Self S, Clarkson KB, Pai GS. Ischiospinal dysostosis with rib gaps and nephroblastomatosis. Clin Dysmorphol. 2001;10(1):19–23.

4. Nishimura G, Kim OH, Sato S, Hasegawa T. Ischiospinal dysostosis with cystic kidney disease: report of two cases. Clin Dysmorphol. 2003;12(2):101–4. doi: 10.1097/01.mcd.0000058254.06646.16 .

5. Nisbet DL, Chitty LS, Rodeck CH, Scott RJ. A new syndrome comprising vertebral anomalies and multicystic kidneys. Clin Dysmorphol. 1999;8(3):173–8.

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