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References

These sources were used to develop the Genetics Home Reference condition summary on oral-facial-digital syndrome.

Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001 Mar;68(3):569-76. Epub 2001 Feb 13. PubMed citation
Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A. 2007 Dec 15;143A(24):3314-23. Review. PubMed citation
Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224. Review. PubMed citation
Nowaczyk MJ, Zeesman S, Whelan DT, Wright V, Feather SA. Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. Am J Med Genet A. 2003 Dec 1;123A(2):179-82. PubMed citation
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. PubMed citation
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8. PubMed citation
Siebert JR. The oral-facial-digital syndromes. Handb Clin Neurol. 2008;87:341-51. doi: 10.1016/S0072-9752(07)87018-7. PubMed citation
Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet. 2006 Jan;43(1):54-61. PubMed citation
Toriello HV. Are the oral-facial-digital syndromes ciliopathies? Am J Med Genet A. 2009 May;149A(5):1089-95. doi: 10.1002/ajmg.a.32799. Review. PubMed citation


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