TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype

A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome

(2019) Mohammad M. Al-Qattan et al.   European Journal of Medical Genetics

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

(2018) Clémence Vanlerberghe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel copy number variants and major limb reduction malformation: Report of three cases

(2016) Hanan E. Shamseldin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes

(2016) Katarzyna Iwanicka-Pronicka et al.   SpringerPlus

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

(2015) Mohammad M. Al-Qattan et al.   GENE

Phenotype of a patient with contiguous deletion ofTBX5andTBX3: Expanding the disease spectrum

(2014) Soujanya Bogarapu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel TBX5 Duplication in a Japanese Family with Holt–Oram Syndrome

(2014) Masato Kimura et al.   PEDIATRIC CARDIOLOGY

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

(2013) Caroline Alby et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype

(2012) Chirag Patel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold

(2012) Chih-Ping Chen et al.   GENE

A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt–Oram Syndrome and Paroxysmal Atrial Fibrillation

(2008) Alex V. Postma et al.   CIRCULATION RESEARCH