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A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome
PURPOSE: To identify the genetic cause in a four-generation Chinese family with Axenfeld-Rieger syndrome (ARS). METHODS: The family members received clinical examinations of the eye, tooth, periumbilical skin, and heart. Sanger sequencing and whole-exome sequencing (WES) were performed to screen pot...
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| Publicado no: | Mol Vis |
|---|---|
| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7553719/ https://ncbi.nlm.nih.gov/pubmed/33088171 |
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