Asphyxiating thoracic dystrophy
Definition:
References:
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[1]. Cecilie Bredrup, et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. [Content Brief]
[2]. Erica E Davis, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar;43(3):189-96. [Content Brief]
[3]. Kim M Keppler-Noreuil, et al. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. 2011 May;155A(5):1021-32. [Content Brief]
[4]. Nathalie Dagoneau, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. [Content Brief]
[5]. Philip L Beales, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. [Content Brief]
[6]. Robert M Campbell Jr, et al. Spine deformities in rare congenital syndromes: clinical issues. Spine (Phila Pa 1976). 2009 Aug 1;34(17):1815-27. [Content Brief]
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