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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.
Diversification and molecular evolution of ATOH8, a gene encoding a bHLH transcription factor.
Chen J, Dai F, Balakrishnan-Renuka A, Leese F, Schempp W, Schaller F, Hoffmann MM, Morosan-Puopolo G, Yusuf F, Bisschoff IJ, Chankiewitz V, Xue J, Chen J, Ying K, Brand-Saberi B. Chen J, et al. Among authors: bisschoff ij. PLoS One. 2011;6(8):e23005. doi: 10.1371/journal.pone.0023005. Epub 2011 Aug 4. PLoS One. 2011. PMID: 21857980 Free PMC article.