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A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
BACKGROUND: Axenfeld-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 identified within ARS patients, ac...
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| Gepubliceerd in: | BMC Med Genet |
|---|---|
| Hoofdauteurs: | , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6560744/ https://ncbi.nlm.nih.gov/pubmed/31185933 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0840-9 |
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