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Holt-Oram syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Holt-Oram syndrome" returned 1 free, full-text review articles. First 1 results:
Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.
Last Updated: Apr 22, 2019

Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS.

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.
Last Updated: Mar 02, 2015

This paper reviews the molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. First, we review all previously reported cases with these mutations, and then describe ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Holt-Oram syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Holt-Oram syndrome" returned 45 free, full-text research articles. First few results:
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Last Updated: Jul 31, 2019

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic ...

Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome.
Last Updated: Apr 24, 2018

Holt-Oram syndrome (HOS) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and congenital heart defects. Alterations of TBX5 gene have been identified to be the leading cause of HOS, while some cases could not be explained by TBX5 mutations. In ...

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45 Free Research Articles 139 Research Articles