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

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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Bibliographic Details
Main Authors: Salam Massadeh, Fahad Alhabshan, Hadeel N. AlSudairi, Sarah Alkwai, Moneera Alsuwailm, Mohamed S. Kabbani, Farah Chaikhouni, Manal Alaamery
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Genes
Subjects:
<i>SH3PXD2B</i>
Frank–Ter Haar syndrome
missense point mutation
whole-exome sequencing
Online Access:https://www.mdpi.com/2073-4425/13/2/236

Internet

https://www.mdpi.com/2073-4425/13/2/236

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