The genetic architecture of aniridia and Gillespie syndrome
Author:
Funder
Wellcome Trust
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-018-1934-8.pdf
Reference170 articles.
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2. Adams D, Karolak M, Robertson E, Oxburgh L (2007) Control of kidney, eye and limb expression of Bmp7 by an enhancer element highly conserved between species. Dev Biol 311:679–690. https://doi.org/10.1016/j.ydbio.2007.08.036
3. Amor DJ (2002) Morbid obesity and hyperphagia in the WAGR syndrome. Clin Dysmorphol 11:73–74
4. Ansari M, Rainger J, Hanson IM et al (2016) Genetic analysis of “PAX6-Negative” individuals with aniridia or gillespie syndrome. PLoS One 11:e0153757. https://doi.org/10.1371/journal.pone.0153757
5. Azuma N, Yamaguchi Y, Handa H et al (1999) Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet 65:656–663. https://doi.org/10.1086/302529
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