Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

doi:10.1016/j.ajhg.2010.01.009

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Article

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

American journal of human genetics - 12 Feb 2010

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

Abstract excerpt

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 representing 12 FTHS families. A locus on chromosome 5q35.1 was identified for which patients from nine families shared...

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Identifiers

PMID: 20137777
DOI: 10.1016/j.ajhg.2010.01.009
PMCID: PMC2820172

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Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.PMID 20137777Read ↗

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