Schizencephaly associated with a severe prothrombotic syndrome caused by antithombin III deficiency

@inproceedings{Daron2015SchizencephalyAW,
  title={Schizencephaly associated with a severe prothrombotic syndrome caused by antithombin III deficiency},
  author={Aurore Daron and M. A. Dresse and Claire Hoyoux and Malek Tebache and J. C. Misson and Fg. Debray},
  year={2015}
}
Introduction A 12 year old boy presented with non syndromic mental retardation. Brain MRI showed schizencephaly with a deep right parietooccipital cleft extending from cortical surface to the occipital horn of cerebral ventricle. Moreover his family was known for antithrombin III deficiency linked to the homozygous c.391C>T (p.Leu131Phe) mutation in SERPINC1. Coagulation studies revealed in this young boy severe antithrombin III deficiency and molecular analysis confimed the mutation… CONTINUE READING

References

Publications referenced by this paper.
SHOWING 1-8 OF 8 REFERENCES

Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study.

  • Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
  • 2012

New trends in neuronal migration disorders

A Verrotti, A Spalice
  • Eur J Paediatr Neurol
  • 2010

candidate gene sequencing of LHX 2 , HESX 1 and SOX 2 in a large schizencephaly cohort

C Mellado, A Poduri
  • Am J Med Genet Nov
  • 2010

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