Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations-Reference-Cited by-同舟云学术

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Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

Published:2017-02-09 Issue:5 Volume:62 Page:553-559
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Abdel-Hamid Mohamed S,Abdel-Salam Ghada M H,Issa Mahmoud Y,Emam Bayoumi A,Zaki Maha S

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg20174.pdf

Reference17 articles.

1. Livingston, J. H., Stivaros, S., van der Knaap, M. S. & Crow, Y. J. Recognizable phenotypes associated with intracranial calcification. Dev. Med. Child Neurol. 55, 46–57 (2013).

2. 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 86, 2016–2024 (2016).

3. Gresser, I., Morel-Maroger, L., Riviere, Y., Guillon, J. C., Tovey, M. G., Woodrow, D. et al. Interferon induced disease in mice and rats. Ann. N. Y. Acad. Sci. 350, 12–20 (1980).

4. Lebon, P., Badoual, J., Ponsot, G., Goutieres, F., Hemeury-Cukier, F. & Aicardi, J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J. Neurol. Sci. 84, 201–208 (1988).

5. Klok, M. D., Bakels, H. S., Postma, N. L., van Spaendonk, R. M., van der Knaap, M. S. & Bugiani, M. Interferon-alpha and the calcifying microangiopathy in Aicardi-Goutières syndrome. Ann. Clin. Transl. Neurol. 2, 774–779 (2015).

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