Cited by

• Cystic renal disease presenting in pregnancy: a novel presentation of oral-facial-digital syndrome type 1.

  Dickinson S, Carr S, de Zoysa J, Barratt J. Dickinson S, et al. NDT Plus. 2008 Feb;1(1):23-25. doi: 10.1093/ndtplus/sfm012. Epub 2007 Dec 19. NDT Plus. 2008. PMID: 30792778 Free PMC article. No abstract available.
• [Syndrome patients within the framework of the early orthodontic treatment of infants with cheilognathopalatoschisis].

  Bacher M, Koppenburg P, Leidig E, Dausch-Neumann D, Schwenzer N, Döring HG. Bacher M, et al. Fortschr Kieferorthop. 1989 Dec;50(6):555-64. doi: 10.1007/BF02163158. Fortschr Kieferorthop. 1989. PMID: 2613148 German.
• Autosomal Trisomies and Partial Trisomy Syndromes: (With Presentation of Two Cases of Partial Trisomy for the E Group of Chromosomes).

  Zaleski WA. Zaleski WA. Can Med Assoc J. 1963 Feb 23;88(8):389-96. Can Med Assoc J. 1963. PMID: 20327419 Free PMC article.
• CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

  Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group. Del Giudice E, et al. Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74. Orphanet J Rare Dis. 2014. PMID: 24884629 Free PMC article.
• Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

  Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Bisschoff IJ, et al. Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23033313 Free PMC article.