Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy-Reference-Cited by-同舟云学术

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Published:2012-12-09 Issue:1 Volume:45 Page:83-87
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Cullup Thomas,Kho Ay Lin,Dionisi-Vici Carlo,Brandmeier Birgit,Smith Frances,Urry Zoe,Simpson Michael A,Yau Shu,Bertini Enrico,McClelland Verity,Al-Owain Mohammed,Koelker Stefan,Koerner Christian,Hoffmann Georg F,Wijburg Frits A,Hoedt Amber E ten,Rogers R Curtis,Manchester David,Miyata Rie,Hayashi Masaharu,Said Elizabeth,Soler Doriette,Kroisel Peter M,Windpassinger Christian,Filloux Francis M,Al-Kaabi Salwa,Hertecant Jozef,Del Campo Miguel,Buk Stefan,Bodi Istvan,Goebel Hans-Hilmar,Sewry Caroline A,Abbs Stephen,Mohammed Shehla,Josifova Dragana,Gautel Mathias,Jungbluth Heinz

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2497.pdf

Reference53 articles.

1. Vici, C.D. et al. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am. J. Med. Genet. 29, 1–8 (1988).

2. del Campo, M. et al. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am. J. Med. Genet. 85, 479–485 (1999).

3. Chiyonobu, T. et al. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am. J. Med. Genet. 109, 61–66 (2002).

4. Miyata, R. et al. Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis. Am. J. Med. Genet. A. 143, 189–194 (2007).

5. McClelland, V. et al. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. Am. J. Med. Genet. A. 152A, 741–747 (2010).

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