Associated Papers
Novel homozygous mutation in the human RAX homeobox gene in a patient with bilateral anophthalmia and severe endocrine dysfunction - a case report and literature review.
El-Nahry YHA et al.
Case Reports in Perinatal Medicine, 2024
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
37154149 (PubMed )
Supplement: mmc2.pdf
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.
Brachet C et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Xenopus mutant reveals necessity of rax for specifying the eye field which otherwise forms tissue with telencephalic and diencephalic character.
Fish MB et al.
Developmental Biology, 2014
RAX and anophthalmia in humans: evidence of brain anomalies.
Abouzeid H et al.
Molecular Vision, 2012
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
Gonzalez-Rodriguez J et al.
The British Journal of Ophthalmology, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Confirmation of RAX gene involvement in human anophthalmia.
Lequeux L et al.
Clinical Genetics, 2008
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.
Voronina VA et al.
Human Molecular Genetics, 2004
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