Handa A et al: Skeletal ciliopathies: a pattern recognition approach. Jpn J Radiol. 38(3):193-206, 2020
D'Ambrosio V et al: Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. Prenat Diagn. 35(1):97-9, 2015
Tahririan D et al: Chondroectodermal dysplasia: a rare syndrome. J Dent (Tehran). 11(3):361-4, 2014
Huber C et al: WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet. 93(5):926-31, 2013
McInerney-Leo AM et al: Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 93(3):515-23, 2013
Muensterer OJ et al: Ellis-van Creveld syndrome: its history. Pediatr Radiol. 43(8):1030-6, 2013
Sasalawad SS et al: Ellis-van Creveld syndrome. BMJ Case Rep. 2013, 2013
Hills CB et al: Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. 32(7):977-82, 2011
Schramm T et al: Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 34(2):160-70, 2009
Baujat G et al: Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2:27, 2007
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Selected References
Handa A et al: Skeletal ciliopathies: a pattern recognition approach. Jpn J Radiol. 38(3):193-206, 2020
D'Ambrosio V et al: Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. Prenat Diagn. 35(1):97-9, 2015
Tahririan D et al: Chondroectodermal dysplasia: a rare syndrome. J Dent (Tehran). 11(3):361-4, 2014
Huber C et al: WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet. 93(5):926-31, 2013
McInerney-Leo AM et al: Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet. 93(3):515-23, 2013
Muensterer OJ et al: Ellis-van Creveld syndrome: its history. Pediatr Radiol. 43(8):1030-6, 2013
Sasalawad SS et al: Ellis-van Creveld syndrome. BMJ Case Rep. 2013, 2013
Hills CB et al: Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol. 32(7):977-82, 2011
Schramm T et al: Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 34(2):160-70, 2009
Baujat G et al: Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2:27, 2007
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