Associated Papers
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.
Gajera M et al.
Bmc Medical Genomics, 2019
31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 3_Human_Cleft_Lip__Table_S3__Significant_R2.xlsx › Single_Gene_Significant
Genetic causes of optic nerve hypoplasia.
Chen CA et al.
Journal of Medical Genetics, 2017
A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.
Norgett EE et al.
Bmc Medical Genetics, 2015
Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
Nasser E et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
Slavotinek AM et al.
Human Mutation, 2012
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