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DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation
UploadMutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Download from europepmc.orgMutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
Download from www.ncbi.nlm.nih.govLRIG2 Mutations Cause Urofacial Syndrome
Download from doi.orgMutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Download from dipot.ulb.ac.beIdentification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2
Download from iovs.arvojournals.orgMissing publications? Search for publications with a matching author name.