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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.
Gene. 2015 Apr 15; 560(2):129-36.GENE

Abstract

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 the pathogenesis of the clinical features in the heart and upper limb. Special emphasis is given to 'non-classic' upper limb features which are known to occur with these mutations. Finally, the molecular basis of other concurrent anomalies (chest wall, craniofacial, vertebral, and lung anomalies) is reviewed.

Authors+Show Affiliations

Division of Plastic Surgery and Hand Surgery, King Saud University, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: moqattan@hotmail.com.Division of Plastic Surgery and Hand Surgery, King Saud University, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

25680289

Citation

Al-Qattan, Mohammad M., and Hussam Abou Al-Shaar. "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." Gene, vol. 560, no. 2, 2015, pp. 129-36.
Al-Qattan MM, Abou Al-Shaar H. 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. Gene. 2015;560(2):129-36.
Al-Qattan, M. M., & Abou Al-Shaar, H. (2015). 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. Gene, 560(2), 129-36. https://doi.org/10.1016/j.gene.2015.02.017
Al-Qattan MM, Abou Al-Shaar H. 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. Gene. 2015 Apr 15;560(2):129-36. PubMed PMID: 25680289.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Al-Qattan,Mohammad M, AU - Abou Al-Shaar,Hussam, Y1 - 2015/02/11/ PY - 2014/10/06/received PY - 2014/11/24/revised PY - 2015/02/02/accepted PY - 2015/2/15/entrez PY - 2015/2/15/pubmed PY - 2015/4/29/medline KW - Holt–Oram syndrome KW - Missense mutation KW - Pathogenesis KW - TBX5 SP - 129 EP - 36 JF - Gene JO - Gene VL - 560 IS - 2 N2 - 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 the pathogenesis of the clinical features in the heart and upper limb. Special emphasis is given to 'non-classic' upper limb features which are known to occur with these mutations. Finally, the molecular basis of other concurrent anomalies (chest wall, craniofacial, vertebral, and lung anomalies) is reviewed. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/25680289/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_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(15)00152-3 DB - PRIME DP - Unbound Medicine ER -