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A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome
Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations of a patient with Okihiro syndrome and perform genetic testing on the proband and his family to determine the biological pathogene...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867470/ https://www.ncbi.nlm.nih.gov/pubmed/35179219 http://dx.doi.org/10.3892/mmr.2022.12647 |