article_metadata: Shazia Micheal Sorath Noorani Siddiqui Saemah Nuzhat Zafar Hanka Venselaar Raheel Qamar Muhammad Imran Khan Anneke I den Hollander
article_metadata: 10.1007/s10048-015-0462-0
article_metadata: Neurogenetics
article_metadata: 2016 Jan;17(1):17-23.
article_metadata: axenfeld–rieger syndrome prdm5 whole exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/26489929/
article_metadata: Anterior Eye Segment / abnormalities DNA-Binding Proteins / genetics Eye Abnormalities / genetics Mutation, Missense Transcription Factors / genetics
article_metadata: Anterior Eye Segment / abnormalities DNA-Binding Proteins / genetics Eye Abnormalities / genetics Mutation, Missense Transcription Factors / genetics Case Reports Research Support, Non-U.S. Gov't Child DNA Mutational Analysis / methods Exome Eye Diseases, Hereditary Family Female Heterozygote Humans Male Middle Aged Pedigree Young Adult DNA-Binding Proteins PRDM5 protein, human Transcription Factors Axenfeld-Rieger syndrome
article_metadata: PMC4701771
article_metadata: 26489929
article_metadata: Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome
article_metadata: 2016