Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies.
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Embryonic Development of the Bicuspid Aortic Valve.A neonate with Joubert syndrome presenting with symptoms of Horner syndrome.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Cilia and coordination of signaling networks during heart development.A role for primary cilia in aortic valve development and disease.Ruptured Sinus of Valsalva Aneurysm Associated with Situs Ambiguus, Isolated Levocardia, and Polysplenia.Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome.Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
P2860
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P2860
Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Severe aortic stenosis, bicusp ...... ted in the human ciliopathies.
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type
label
Severe aortic stenosis, bicusp ...... ted in the human ciliopathies.
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prefLabel
Severe aortic stenosis, bicusp ...... ted in the human ciliopathies.
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P2093
P921
P1476
Severe aortic stenosis, bicusp ...... ted in the human ciliopathies.
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P2093
Lars Grosse-Wortmann
Natalya Karp
Sarah Bowdin
P304
P356
10.1016/J.EJMG.2012.07.010
P577
2012-08-03T00:00:00Z