Prenatal diagnosis of Fraser syndrome: a matter of life or death?
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13052-015-0195-6
Reference9 articles.
1. Fraser GR. Our genetical “load”: a review of some aspects of genetical variation. Ann Hum Genet [London]. 1962;25:387–415.
2. van Haelst MM, Scambler PJ, Fraser Syndrome Collaboration Group, Hennekam RC. Fraser syndrome:a clinical study of 59 cases and evaluation of diagnostic criteria. American Journal of Medical Genetics. 2007;Part A 143A:3194–203.
3. Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002;39:623–33.
4. Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P. Mutations in GRIP1 cause Fraser syndrome. JMedGenet. 2012;49(5):303–6.
5. Maruotti GM, Paladini D, Agangi A, Martinelli P. Prospective prenatal diagnosis of Fraser syndrome variant in a family with negative history. Prenat Diagn. 2004;24:67–72.
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