A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation-Reference-Cited by-同舟云学术

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A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

Published:2015-08 Issue:8 Volume:58 Page:387-391
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Horn Denise,Prescott Trine,Houge Gunnar,Brække Kristin,Rosendahl Karen,Nishimura Gen,FitzPatrick David R.,Spranger Jürgen

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference8 articles.

1. Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia;Campos-Xavier;Am. J. Hum. Genet.,2009

2. Patterson-Lowry rhizomelic dysplasia: a potentially lethal bone dysplasia?;Kamoda;Pediatr. Radiol.,2001

3. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry;Olbrich;Am. J. Hum. Genet.,2012

4. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations;Rainger;Am. J. Hum. Genet.,2014

5. A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations;Urbach;Clin. Genet.,1986

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