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Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome
PURPOSE: Axenfeld‐Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine the PITX2 gene to identify possible novel mutations in Pakistani and Mexican families affected by the ARS phenotype. METHODS: Three unrelat...
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| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7336731/ https://ncbi.nlm.nih.gov/pubmed/32400113 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1215 |
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