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familial spina bifida

Thursday 9 February 2006

Etiology

- VANGL1 germline mutations (17409324)

References

- Kibar, Z.; Torban, E.; McDearmid, J. R.; Reynolds, A.; Berghout, J.; Mathieu, M.; Kirillova, I.; De Marco, P.; Merello, E.; Hayes, J. M.; Wallingford, J. B.; Drapeau, P.; Capra, V.; Gros, P. :
Mutations in VANGL1 associated with neural-tube defects. New Eng. J. Med. 356: 1432-1437, 2007. PubMed ID : 17409324

- Fineman, R. M.; Jorde, L. B.; Martin, R. A.; Hasstedt, S. J.; Wing, S. D.; Walker, M. L. : Spinal dysraphia as an autosomal dominant defect in four families. Am. J. Med. Genet. 12: 457-464, 1982. PubMed ID : 6751087

- Windham GC, Sever LE. Neural tube defects among twin births. Am J Hum Genet. 1982 Nov;34(6):988-98. PMID: 7180853

- Fellous, M.; Boue, J.; Malbrunot, C.; Wollman, E.; Sasportes, M.; Van Cong, N.; Marcelli, A.; Rebourcet, R.; Hubert, C.; Demenais, F.; Elston, R. C.; Namboodiri, K. K.; Kaplan, E. B. : A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. Am. J. Med. Genet. 12: 465-487, 1982. PubMed ID : 6214946

- Sever, L. E. : A case of meningomyelocele in a kindred with multiple cases of spondylolisthesis and spina bifida occulta. J. Med. Genet. 11: 94-96, 1974. PubMed ID : 4600010

- Lorber, J. : The family of spina bifida cystica. Pediatrics 35: 589-595, 1965. PubMed ID : 14269710

- Morris JV. Familial spina bifida. J Ir Med Assoc. 1957 May;40(239):154. PMID: 13416715