A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9-Reference-Cited by-同舟云学术

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Published:2015-05-13 Issue:2 Volume:24 Page:198-207
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Tham Emma,Eklund Erik A,Hammarsjö Anna,Bengtson Per,Geiberger Stefan,Lagerstedt-Robinson Kristina,Malmgren Helena,Nilsson Daniel,Grigelionis Gintautas,Conner Peter,Lindgren Peter,Lindstrand Anna,Wedell Anna,Albåge Margareta,Zielinska Katarzyna,Nordgren Ann,Papadogiannakis Nikos,Nishimura Gen,Grigelioniene Giedre

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201591.pdf

Reference22 articles.

1. 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: 511–518.

2. Nishimura G, Nakayama M, Fuke Y et al: A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. Pediatr Radiol 1998; 28: 43–47.

3. Jaeken J : Congenital disorders of glycosylation (CDG): it's (nearly) all in it!. J Inherit Metab Dis 2011; 34: 853–858.

4. Freeze HH, Eklund EA, Ng BG et al: Neurology of inherited glycosylation disorders. Lancet Neurol 2012; 11: 453–466.

5. Coman D, Irving M, Kannu P et al: The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet 2008; 73: 507–515.

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