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By Robert S. Krauss (Eds.)

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Mol. Genet. 12, 87–98. Neumann, P. , et al. (1994). Multifactorial inheritance of neural tube defects: Localization of the major gene and recognition of modifiers in ct mutant mice. Nat. Genet. 6, 357–362. Nye, J. , et al. (1998). Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect. Am. J. Med. Genet. 75, 401–408. , et al. (1992). Developmental expression of the alpha receptor for plateletderived growth factor, which is deleted in the embryonic lethal Patch mutation.

The induction of tail malformations in trisomy 16 mouse fetuses heterozygous for the curly tail recessive gene. Genet. Res. 55, 27–32. Curtin, J. , et al. (2003). Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr. Biol. 13, 1129–1133. da-Silva, E. O. (1991). Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review. Am. J. Med. Genet. 40, 65–74. Dawe, H. , et al. (2007). The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

1998). Altered regulation of platelet-derived growth factor receptoralpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins. Proc. Natl Acad. Sci. USA 95, 14459–14463. Joosten, P. , et al. (2001). Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects. Nat. Genet. 27, 215–217. Joosten, P. , et al. (2005). Pax1/E2a double-mutant mice develop non-lethal neural tube defects that resemble human malformations.

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