Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469.

Rare T-box variants in adult pulmonary arterial hypertension with congenital heart disease.

Challenges in Identifying the Cause of Fetal Sinus Bradycardia: Coexistence of Maternal Anti-SSA Antibodies and Holt-Oram Syndrome Due to a Novel TBX5 Variant.

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.

An Algorithm for Management of Radial Longitudinal Deficiency.

Single-nuclei transcriptomics reveals TBX5-dependent targets in a patient with Holt-Oram syndrome.

Elucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Anesthetic management of an infant with Holt-Oram syndrome.

Associated Anomalies in Radial Ray Deficiency.

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

When the heart and hands tell a story: an intriguing case of Holt-Oram syndrome.

Cutting the Gordian knot of diuretic resistance using continuous ultrafiltration in a Holt-Oram patient with decompensated heart failure and Eisenmenger syndrome: a case report.

Holt-Oram Syndrome With Atrial Septal Defect.

[Advances in genetic research on Non-syndromic congenital joint synostosis].

Human Genetics of Hypoplastic Left Heart Syndrome.

Human Genetics of Semilunar Valve and Aortic Arch Anomalies.

Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.

Human Genetics of Ventricular Septal Defect.

Human Genetics of Atrial Septal Defect.

Long-term follow-up for the atypical radial longitudinal deficiency: A case report.

Holt-Oram Syndrome with Pulmonary Involvement-A Valuable Algorithm to Follow.

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.

Holt-Oram Syndrome with Sacrococcygeal Teratoma - A Rare Association.

Type-I umbilical-systemic shunt with abnormal connection to azygos vein in fetus with de-novo TBX5 mutation related to Holt-Oram syndrome.

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.

The HOS1-PIF4/5 module controls callus formation in Arabidopsis leaf explants.

SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.

Holt-Oram syndrome: a rare clinical image.

A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt-Oram syndrome.

Generation of three CRISPR/Cas9 edited human induced pluripotent stem cell lines (DHMi005-A-5, DHMi005-A-6 and DHMi005-A-7) carrying a Holt-Oram Syndrome patient-specific TBX5 mutation with known cardiac phenotype and a FLAG-tag after exon 9 of the TBX5 gene.

Case report: Novel TBX5-related pathogenic mechanism of Holt-Oram syndrome.

Radial Ray Anomaly with Associated Ventricular Septal Defect - Case Report with Review of Literature.

A Rare Variant and Unusual Presentation of Holt Oram Syndrome in a Child.

Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt-Oram syndrome.

Wildervanck syndrome: clinical case report.

Epidemiology of Congenital Hand Differences at a Tertiary Hospital in Southern India - Establishment of a New Registry and Assessment Using Both the Swanson/IFSSH and the Oberg, Manske and Tonkin Classifications.

Preiser's Disease as a Consequence of Scaphoid Hypoplasia After Remote Index Finger Repositioning: A Case Report.

A Case Report of Thromboembolic Stroke in a Patient with Holt-Oram Syndrome.

Prenatal diagnosis of Holt-Oram syndrome.

Holt-Oram Syndrome: An Incidental Diagnosis.

TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.

Congenital Disorders of the Pediatric Thumb.

Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene.

Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.

A genotype-first analysis in a cohort of Mullerian anomaly.

Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach.

Atrial myopathy: A primary substrate for atrial fibrillation.

Establishment of a patient-specific induced pluripotent stem cell line DHMi004-A from a male Holt-Oram syndrome patient with verified TBX5 mutation.

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).

Prenatal Diagnosis of Holt-Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report.

Holt-Oram syndrome, bicuspid aortic valve, and patent ductus arteriosus.

Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome.

Diagnosis of absent right superior vena cava with intraoperative transesophageal echocardiography in a child with Holt-Oram syndrome: Anesthetic and perfusion implications.

Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome.

Combined clinic and home-based therapeutic approach for the treatment of bilateral radial deficiency for a young child with Holt-Oram syndrome: A case report.

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

Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.

Generation of a TBX5 homozygous knockout embryonic stem cell line (WAe009-A-45) by CRISPR/Cas9 genome editing.

Micromelic upper limbs and cardiac defect: A fetal case of Holt-Oram syndrome identified in the first trimester.

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.

Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China.

Transcriptional regulation of human T-box 5 gene (TBX5) by bone- and cardiac-related transcription factors.

Association of Radial Longitudinal Deficiency and Thumb Hypoplasia: An Update Using the CoULD Registry.

Steroid-associated bradycardia in a newly diagnosed B precursor acute lymphoblastic leukemia patient with Holt-Oram syndrome.

Congenital superior oblique palsy in a patient with Holt-Oram syndrome.

Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.

Individual Limb Muscle Bundles Are Formed through Progressive Steps Orchestrated by Adjacent Connective Tissue Cells during Primary Myogenesis.

Asymptomatic phaeochromocytoma in a patient with Holt-Oram syndrome: a case report.

Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome.

HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1.

miR-182-5p is an evolutionarily conserved Tbx5 effector that impacts cardiac development and electrical activity in zebrafish.

Holt-Oram Syndrome: Hands are the Clue to the Diagnosis.

The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.

Tbx5 inhibits hedgehog signaling in determination of digit identity.

Atrial septal defect type II and upper limb malformation in 40-year-old male as a manifestation of Holt-Oram syndrome.

Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome.

Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses.

Possible Holt-Oram Syndrome: Missed Prenatal Diagnosis and Sub-Optimal Management in a Poor-Resourced Hospital.

Reconstruction of A Type IIIB Hypoplastic Thumb with A Huber Opposition Transfer in A Five-Year-Old Girl: Redefining Surgical Treatment.

Modeling human point mutation diseases in Xenopus tropicalis with a modified CRISPR/Cas9 system.

Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.

An Unusual Finding of a Double Orifice Mitral Valve in a Patient With Holt-Oram Syndrome.

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

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome.

A transcriptomics analysis of the Tbx5 paralogues in zebrafish.

Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.

Evolutionarily conserved Tbx5-Wnt2/2b pathway orchestrates cardiopulmonary development.

Holt-Oram Syndrome With Multiple Cardiac Abnormalities.

Electrical disorders in atrial septal defect: genetics and heritability.

Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.

Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field.

Post-transcriptional Modulation of Sphingosine-1-Phosphate Receptor 1 by miR-19a Affects Cardiovascular Development in Zebrafish.

Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China.

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease.

Anti-apoptotic effects of IGF-I on mortality and dysmorphogenesis in tbx5-deficient zebrafish embryos.

Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome.

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development.

Contiguous gene deletion of TBX5 and TBX3: report of another case.

Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray.

Holt-Oram Syndrome: A Rare Variant.

MicroRNAs: pleiotropic players in congenital heart disease and regeneration.

T-box family of transcription factor-TBX5, insights in development and disease.

A Comprehensive TALEN-Based Knockout Library for Generating Human-Induced Pluripotent Stem Cell-Based Models for Cardiovascular Diseases.

Quantitative anatomy of the growing clavicle in the human fetus: CT, digital image analysis, and statistical study.

KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.

Holt-Oram syndrome: Anesthetic challenges and safe outcome.

TBX5: A Key Regulator of Heart Development.

Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation.

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

Arterial dysgenesis and limb defects: Clinical and experimental examples.

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

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome.

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.

Discovering miRNA Regulatory Networks in Holt-Oram Syndrome Using a Zebrafish Model.

Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association.

A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome.

Holt Oram syndrome: a case report and review of the literature.

TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.

A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome.

Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research.

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation.

Absent Left Main Coronary Artery and Separate Ostia of Left Coronary System in a Patient with Holt-Oram Syndrome and Sinus Node Dysfunction.

Left Ventricular Non-compaction in Holt-Oram Syndrome.

A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.

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

MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome.

Asymmetric cell convergence-driven zebrafish fin bud initiation and pre-pattern requires Tbx5a control of a mesenchymal Fgf signal.

Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations.

Defining Features of the Upper Extremity in Holt-Oram Syndrome.

A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.

Horseshoe Lung Associated With Holt-Oram Syndrome.

Severe scoliosis, torticollis and short stature in a woman with Wildervanck Syndrome (WS).

Tbx5 and Osr1 interact to regulate posterior second heart field cell cycle progression for cardiac septation.

Mesodermal expression of Moz is necessary for cardiac septum development.

Tetralogy of Fallot with Holt-Oram syndrome: case report and review.

Monilethrix with holt-oram syndrome: case report of a rare association.

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.

Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.

Atypical carpal tunnel syndrome in a holt oram patient: a case report and literature review.