Eye development genes and known syndromes, Molecular Genetics and Metabolism, vol.104, issue.4, pp.448-456, 2011. ,
DOI : 10.1016/j.ymgme.2011.09.029
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224152
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency, Human Genetics, vol.15, issue.11, pp.721-729, 2010. ,
DOI : 10.1007/s00439-010-0820-9
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype, The Journal of Clinical Endocrinology & Metabolism, vol.95, issue.2, pp.756-764, 2010. ,
DOI : 10.1210/jc.2009-1334
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies, American Journal of Medical Genetics Part A, vol.13, issue.16, pp.1711-1718, 2006. ,
DOI : 10.1002/ajmg.a.31335
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype, Clinical Genetics, vol.15, issue.3, pp.158-168, 2011. ,
DOI : 10.1111/j.1399-0004.2010.01450.x
Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways, The American Journal of Human Genetics, vol.82, issue.2, pp.304-319, 2008. ,
DOI : 10.1016/j.ajhg.2007.09.023
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome, Human Genetics, vol.15, issue.4, pp.495-504, 2011. ,
DOI : 10.1007/s00439-011-0968-y
mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma, Human Mutation, vol.29, issue.11, pp.278-283, 2008. ,
DOI : 10.1002/humu.20869
Ophthalmic and Systemic Findings in Interstitial Deletions of Chromosome 14q: A Case Feport and Literature Review, Ophthalmic Genetics, vol.95, issue.1, pp.161-166, 2012. ,
DOI : 10.1111/j.1399-0004.2010.01450.x
Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2, Am J Med Genet A, vol.158, pp.1381-1387, 2012. ,
Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly, Am J Med Genet A, vol.146, pp.2905-2910, 2008. ,
Concurrent deletion of BMP4 and OTX2 genes, two master genes in??ophthalmogenesis, European Journal of Medical Genetics, vol.56, issue.1, pp.50-53, 2013. ,
DOI : 10.1016/j.ejmg.2012.10.007
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies, European Journal of Human Genetics, vol.140, issue.5, pp.527-533, 2012. ,
DOI : 10.1016/j.neuron.2007.05.004
The role of Six1 in mammalian auditory system development, Development, vol.130, issue.17, pp.3989-4000, 2003. ,
DOI : 10.1242/dev.00628
gene may be the underlying cause of Fr??as syndrome, American Journal of Medical Genetics Part A, vol.401, issue.2, pp.338-345, 2014. ,
DOI : 10.1002/ajmg.a.36224
Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation, American Journal of Medical Genetics Part A, vol.93, issue.3, 2014. ,
DOI : 10.1002/ajmg.a.36330