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

Genes - 27 Jan 2022

Massadeh Salam, Alhabshan Fahad, AlSudairi Hadeel N, Alkwai Sarah, Alsuwailm Moneera, Kabbani Mohamed S, Chaikhouni Farah, Alaamery Manal

Abstract excerpt

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) to identify the genetic component responsible for the phenotype of the index patient, a male infant born to a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35205281
DOI: 10.3390/genes13020236
PMCID: PMC8872394

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