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Holt-Oram syndrome

Known as: Atrio-Digital Syndrome, HOS1, Ventriculo-Radial Syndrome 
A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs… 
National Institutes of Health

Related topics

Related topics

18 relations
Aplasia of the pectoralis major muscleAutosomal dominant inheritanceBifid thumbCongenital anomaly of spine

Broader (6)

Atrial Septal DefectsCongenital Heart DefectsCongenital heart diseaseHereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Entangled Bessel beams
Bessel-Gaussian (BG) modes possess unique characteristics that have been exploited in the classical world and which may also… 
2010
2010
Recruitment limitation after mast-seeding in two African rain forest trees.
Seed and establishment limitation can have a major role in determining plant species' abundances and distributions in communities… 
2008
2008
Quantum Matching Pennies Game
A quantum version of the matching pennies (MP) game is proposed that is played using an Einstein–Podolsky–Rosen–Bohm (EPR–Bohm… 
2005
2005
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome
Holt-Oram syndrome (HOS) (MIM 142900), first described by Holt and Oram in 1960, is characterised by malformations of the upper… 
Review
2005
Review
2005
Das morphologische System der Saatgerste,Hordeum vulgare L. s. l.
tischen Arbeiten ist ja das Phanomen der Polyploidie fiberhaupt entdeckt worden, and nur dadnrch hat man zeigen k6nnen, dab die… 
Highly Cited
1998
Highly Cited
1998
Sequencing DNA using mass spectrometry for ladder detection.
Sequencing of DNA fragments of 130 and 200 bp using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry… 
1978
1978
Effects of amiodarone studied by programmed electrical stimulation of the heart in patients with paroxysmal re-entrant supraventricular tachycardia.
1974
1974
Variable expression of the Holt-Oram syndrome.
The Holt-Oram syndrome is an autosomal dominant disorder consisting of upper-extremity and cardiovascular anomalies. Three… 
1972
1972
The Holt-Oram syndrome with previously undescribed associated anomalies.
Holt and Oram first described the combination of anomalies of the upper limb with atrial septal defect. Other cardiac lesions… 
Highly Cited
1966
Highly Cited
1966
Congenital absence or hypoplasia of the radius with ventricular septal defect: Ventriculo-radial dysplasia*
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