A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
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DOI: 10.1186/s12881-019-0840-9
Abstract: BackgroundAxenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes PITX2 and FOXC1 have been… read more here.
Keywords: exome sequencing; rieger syndrome; family; pitx2 gene ... See more keywords