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Holt-Oram syndrome.
Goldfarb CA, Wall LB. Goldfarb CA, et al. J Hand Surg Am. 2014 Aug;39(8):1646-8. doi: 10.1016/j.jhsa.2014.02.015. Epub 2014 Mar 20. J Hand Surg Am. 2014. PMID: 24656395 Review. No abstract available.
Holt Oram syndrome: a case report and review of the literature.
Virdis G, Dessole M, Dessole S, Ambrosini G, Cosmi E, Cherchil PL, Capobianco G. Virdis G, et al. Clin Exp Obstet Gynecol. 2016;43(1):137-9. Clin Exp Obstet Gynecol. 2016. PMID: 27048037 Review.
Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. ...
Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogen …
Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.
Arkoumanis PT, Gklavas A, Karageorgou M, Gourzi P, Mantzaris G, Pantou M, Papaconstantinou I. Arkoumanis PT, et al. Med Arch. 2018 Oct;72(4):292-294. doi: 10.5455/medarh.2018.72.292-294. Med Arch. 2018. PMID: 30514998 Free PMC article. Review.
INTRODUCTION: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. ...Therefore, a possible genetic connection between Holt …
INTRODUCTION: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects …
Radial longitudinal deficiency.
Maschke SD, Seitz W, Lawton J. Maschke SD, et al. J Am Acad Orthop Surg. 2007 Jan;15(1):41-52. doi: 10.5435/00124635-200701000-00005. J Am Acad Orthop Surg. 2007. PMID: 17213381 Review.
All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram s …
All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complet …
TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.
Mori AD, Bruneau BG. Mori AD, et al. Curr Opin Cardiol. 2004 May;19(3):211-5. doi: 10.1097/00001573-200405000-00004. Curr Opin Cardiol. 2004. PMID: 15096952 Review.
PURPOSE OF REVIEW: Mutations in the T-box transcription factor TBX5 cause Holt-Oram syndrome (HOS), an autosomal-dominant condition characterized by a familial history of congenital heart defects and preaxial radial ray upper limb defects. ...
PURPOSE OF REVIEW: Mutations in the T-box transcription factor TBX5 cause Holt-Oram syndrome (HOS), an autosomal-domina …
[The Holt-Oram syndrome. Review of the literature and current orthopedic treatment concepts].
Weber M, Wenz W, van Riel A, Kaufmann A, Graf J. Weber M, et al. Z Orthop Ihre Grenzgeb. 1997 Jul-Aug;135(4):368-75. doi: 10.1055/s-2008-1039403. Z Orthop Ihre Grenzgeb. 1997. PMID: 9381776 Review. German.
PROBLEM: The clinical manifestation of the Holt-Oram-syndrome (HOS) shows congenital heart-disease and anomalies of the upper limb. ...
PROBLEM: The clinical manifestation of the Holt-Oram-syndrome (HOS) shows congenital heart-disease and anomalies of the …
Current advances in Holt-Oram syndrome.
Huang T. Huang T. Curr Opin Pediatr. 2002 Dec;14(6):691-5. doi: 10.1097/00008480-200212000-00008. Curr Opin Pediatr. 2002. PMID: 12436037 Review.
Holt-Oram syndrome is an autosomal-dominant condition characterized by congenital cardiac and forelimb anomalies. ...
Holt-Oram syndrome is an autosomal-dominant condition characterized by congenital cardiac and forelimb anomalies. ...
TBX5: A Key Regulator of Heart Development.
Steimle JD, Moskowitz IP. Steimle JD, et al. Curr Top Dev Biol. 2017;122:195-221. doi: 10.1016/bs.ctdb.2016.08.008. Epub 2016 Sep 28. Curr Top Dev Biol. 2017. PMID: 28057264 Free PMC article. Review.
Human patients with dominant mutations in TBX5 are characterized by Holt-Oram syndrome, and show defects of the cardiac septa, cardiac conduction system, and the anterior forelimb. ...
Human patients with dominant mutations in TBX5 are characterized by Holt-Oram syndrome, and show defects of the cardiac …
36 results