Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification-Reference-Cited by-同舟云学术

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification

Published:2018-06-08 Issue:9 Volume:63 Page:1003-1007
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Ürel-Demir Gizem^ORCID,Simsek-Kiper Pelin Ozlem,Akgün-Doğan Özlem,Göçmen Rahşan,Wang Zheng,Matsumoto Naomichi,Miyake Noriko,Utine Gülen Eda,Nishimura Gen,Ikegawa Shiro,Boduroglu Koray

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0473-4.pdf

Reference16 articles.

1. Borochowitz Z, Langer LO Jr, Gruber HE, Lachman R, Katznelson MB, Rimoin DL. Spondylo-metaepiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. Am J Med Genet. 1993;45:320–6.

2. Langer LO Jr, Wolfson BJ, Scott CI Jr, Reid CS, Schidlow DV, Millar EA, Borns PF, Lubicky JP, Carpenter BL. Further delineation of spondylometa-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features. Am J Med Genet. 1993;45:488–500.

3. Al-Gazali LI, Bakalinova D, Sztriha L. Spondylo-metaepiphyseal dysplasia, short limb, abnormal calcification type. Clin Dysmorphol. 1996;5:197–206.

4. Rozovsky K, Sosna J, LeMerrer M, Simanovsky N, Koplewitz BZ, Bar-Ziv J, CormierDaire V, Raas-Rothschild A. Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence. Pediatr Radiol. 2011;41:1298–1307.

5. Smithson SF, Grier D, Hall CM. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin Dysmorphol. 2009;18:31–35.

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