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...

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Detalles Bibliográficos
Autores principales: Ma, Xiuli, Huang, Rui, Li, Guo, Zhang, Tiesong, Ma, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Articles
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

Internet

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

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