Human pathology

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VANGL1

MIM.610132

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Planar cell polarity pathway and VINGL1

Pathology

- germline mutations in neural-tube defects (NTDs) as anencephaly and spina bifida (17409324)

See also

- VANGLs: VANGL1, VANGL2

References

- Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P. Mutations in VANGL1 associated with neural-tube defects. N Engl J Med. 2007 Apr 5;356(14):1432-7. PMID: 17409324