A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy-Reference-Cited by-同舟云学术

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

Published:2018-03-19 Issue:6 Volume:63 Page:749-753
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Suzuki-Muromoto Sato,Wakusawa Keisuke,Miyabayashi Takuya,Sato Ryo,Okubo Yukimune,Endo Wakaba,Inui Takehiko,Togashi Noriko,Kato Atsuko,Oba Hiroshi,Nakashima Mitsuko,Saitsu Hirotomo^ORCID,Matsumoto Naomichi,Haginoya Kazuhiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0432-0.pdf

Reference15 articles.

1. Hayashi S, Takeichi M. Emerging roles of protocadherins: from self-avoidance to enhancement of motility. J Cell Sci. 2015;128:1455–64.

2. Kim SY, Yasuda S, Tanaka H, Yamagata K, Kim H. Non-clustered protocadherin. Cell Adh Migr. 2011;5:97–105.

3. Wu Q, Maniatis T. Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes. Proc Natl Acad Sci USA. 2000;97:3124–9.

4. Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, et al. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. Neurology. 2016;86:2016–4.

5. Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, et al. Brain calcifications and PCDH12 variants. Neurol Genet. 2017;3:e166.

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