Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

Frank-Ter Haar syndrome (FTHS), also known as Ter Haar syndrome, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and hypertelorism. We have conducted homozygosity mapping on patients represen...

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Autori principali: Iqbal, Zafar, Cejudo-Martin, Pilar, de Brouwer, Arjan, van der Zwaag, Bert, Ruiz-Lozano, Pilar, Scimia, M. Cecilia, Lindsey, James D., Weinreb, Robert, Albrecht, Beate, Megarbane, Andre, Alanay, Yasemin, Ben-Neriah, Ziva, Amenduni, Mariangela, Artuso, Rosangela, Veltman, Joris A., van Beusekom, Ellen, Oudakker, Astrid, Millán, José Luis, Hennekam, Raoul, Hamel, Ben, Courtneidge, Sara A., van Bokhoven, Hans
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2820172/
https://ncbi.nlm.nih.gov/pubmed/20137777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.01.009
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