Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features-Reference-Cited by-同舟云学术

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

Published:2016-03-22 Issue:3 Volume:17 Page:159-164
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Steinfeld Hallie,Cho Megan T.,Retterer Kyle,Person Rick,Schaefer G. Bradley,Danylchuk Noelle,Malik Saleem,Wechsler Stephanie Burns,Wheeler Patricia G.,van Gassen Koen L.I.,Terhal P.A.,Verhoeven Virginie J.M.,van Slegtenhorst Marjon A.,Monaghan Kristin G.,Henderson Lindsay B.,Chung Wendy K.

Funder

Simons Foundation

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-016-0479-z.pdf

Reference18 articles.

1. Srivastava, S, Engels H, Schanze I, et al. (2016) Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet 24(4):556–561.

2. Rauch A, Wieczorek D, Graf E, et al. (2012) Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380(9854):1674–1682

3. Tanaka AJ, Cho MT, Millan F, et al. (2015) Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss. Am J Hum Genet 97(3):457–464