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Case Report

Prenatal genetic diagnosis of Neu-Laxova syndrome

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Pages 413-414 | Received 10 Mar 2017, Accepted 22 May 2017, Published online: 14 Sep 2017

References

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  • Coto-Puckett WL, Gilbert-Barness E, Steelman CK, Stuart T, Robinson HB, Shehata BM, et al. 2010. A spectrum of phenotypical expression of Neu-Laxova syndrome: three case reports and a review of the literature. Fetal and Pediatric Pathology 29:108–119.
  • Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE. 2004. Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. American Journal of Medical Genetics. Part AA 125A:240–249.
  • Neu RL, Kajii T, Gardner LI, Nagyfy SF. 1971. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 47:610–612.
  • Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, et al. 2014. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. American Journal of Human Genetics 94:898–904.
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