The genetic architecture of microphthalmia, anophthalmia and coloboma
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference112 articles.
1. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome;Abouzeid;Am J Hum Genet,2011
2. RAX and anophthalmia in humans: evidence of brain anomalies;Abouzeid;Mol Vis,2012
3. Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia;Akizu;Am J Hum Genet,2013
4. SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours;Alatzoglou;Hum Mutat,2011
5. Mutations in ALDH1A3 cause microphthalmia;Aldahmesh;Clin Genet,2013
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3. Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia;The Journal of Gene Medicine;2023-09-27
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