A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting with Congenital Glaucoma.
Sign Up to like & getrecommendations! 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,… read more here.
Keywords: haar syndrome; frank ter; sibling pair; glaucoma ... See more keywords
The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank–Ter Haar Syndrome
Sign Up to like & getrecommendations! 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,… read more here.
Keywords: adaptor protein; ter haar; podosome adaptor; frank ter ... See more keywords