Cranioectodermal dysplasia
Definition:
References:
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[1]. Anastasia E Konstantinidou, et al. Cranioectodermal dysplasia: a probable ciliopathy. Am J Med Genet A. 2009 Oct;149A(10):2206-11. [Content Brief]
[2]. 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]
[3]. Christian Gilissen, et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet. 2010 Sep 10;87(3):418-23. [Content Brief]
[4]. Heleen H Arts, et al. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 2011 Jun;48(6):390-5. [Content Brief]
[5]. Joanna Walczak-Sztulpa, et al. Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet. 2010 Jun 11;86(6):949-56. [Content Brief]
[6]. Samantha A Brugmann, et al. Craniofacial ciliopathies: A new classification for craniofacial disorders. Am J Med Genet A. 2010 Dec;152A(12):2995-3006. [Content Brief]
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