Disease: Heart-hand syndrome-Spanish type
- A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation
- A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function
- A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report
- Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China
- Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China
- Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart
- Exome sequencing identifies a c.148-1G>C mutation of TBX5 in a Holt-Oram family with unusual genotype-phenotype correlations
- Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W)
- Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
- Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly
- Heart-hand syndrome of Slovenian type: a new kind of laminopathy
- Holt-Oram Syndrome With Atrial Septal Defect
- MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome
- Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of <em>TBX3</em> Mutation
- Tbx5 is required for avian and Mammalian epicardial formation and coronary vasculogenesis
- The "heart-hand" syndrome in a 8-year-old-boy with short stature