Acrofacial dysostosis
Definition:
References:
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[1]. C Verrotti, et al. Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review. J Matern Fetal Neonatal Med. 2007 Jun;20(6):487-90. [Content Brief]
[2]. D Wieczorek, et al. Human facial dysostoses. Clin Genet. 2013 Jun;83(6):499-510. [Content Brief]
[3]. Francois P Bernier, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet. 2012 May 4;90(5):925-33. [Content Brief]
[4]. J M Opitz, et al. Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. Am J Med Genet. 1993 Oct 1;47(5):660-78. [Content Brief]
[5]. K Nicole Weaver, et al. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015 May 7;96(5):765-74. [Content Brief]
[6]. Paul A Trainor, et al. Facial dysostoses: Etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):283-94. [Content Brief]
[7]. Sarah B Ng, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. [Content Brief]
[8]. V L Ruiz-Perez, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000 Mar;24(3):283-6. [Content Brief]
[9]. Xiaoqian Ye, et al. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Hum Genet. 2006 Mar;119(1-2):199-205. [Content Brief]
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