The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome

Frank–Ter Haar syndrome (FTHS), sometimes referred to as Ter Haar syndrome, is a rare hereditary disorder that manifests in skeletal, cardiac, and ocular anomalies, including hypertelorism, glaucoma, prominent eyes, and facial abnormalities. In this study, we performed whole-exome sequencing (WES) t...

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Detalles Bibliográficos
Autores principales: Massadeh, Salam, Alhabshan, Fahad, AlSudairi, Hadeel N., Alkwai, Sarah, Alsuwailm, Moneera, Kabbani, Mohamed S., Chaikhouni, Farah, Alaamery, Manal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872394/
https://www.ncbi.nlm.nih.gov/pubmed/35205281
http://dx.doi.org/10.3390/genes13020236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872394/
https://www.ncbi.nlm.nih.gov/pubmed/35205281
http://dx.doi.org/10.3390/genes13020236

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