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Published in 2019 at "Journal of Glaucoma"
DOI: 10.1097/ijg.0000000000001420
Abstract: Frank Ter Haar Syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous parents,…
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Keywords:
haar syndrome;
frank ter;
sibling pair;
glaucoma ... See more keywords
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Published in 2022 at "Genes"
DOI: 10.3390/genes13020236
Abstract: 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,…
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Keywords:
adaptor protein;
ter haar;
podosome adaptor;
frank ter ... See more keywords