Shazia Micheal Sorath Noorani Siddiqui Saemah Nuzhat Zafar Hanka Venselaar Raheel Qamar Muhammad Imran Khan Anneke I den Hollander
10.1007/s10048-015-0462-0
Neurogenetics
2016 Jan;17(1):17-23.
axenfeld–rieger syndrome prdm5 whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/26489929/
Anterior Eye Segment / abnormalities DNA-Binding Proteins / genetics Eye Abnormalities / genetics Mutation, Missense Transcription Factors / genetics
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
PMC4701771
26489929
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome
2016