A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin

Publisher： John Wiley & Sons Inc

E-ISSN： 1531-8249|83|2|433-436

ISSN： 0364-5134

Source： ANNALS OF NEUROLOGY, Vol.83, Iss.2, 2018-02, pp. : 433-436

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

By  

EPILEPSIA, Vol. 55, Iss. 7, 2014-07 ,pp. : 994-1000

John Wiley & Sons Inc

Access to resources Recommend Favorite

Mature Teratoma in Association with Neural Tube Defect (Occipital Encephalocele): Series of Four Cases and Review of the Literature

By  

Pediatric Neurosurgery, Vol. 48, Iss. 2, 2012-09 ,pp. : 67-72

Karger

Access to resources Recommend Favorite

Uterus-Like Mass in Association with Neural Tube Defect: A Case Report and Review of the Literature

By  

Pediatric Neurosurgery, Vol. 48, Iss. 4, 2013-04 ,pp. : 240-244

Karger

Access to resources Recommend Favorite

Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain

By  

Cardiology in the Young, Vol. 27, Iss. 3, 2016-05 ,pp. : 467-472

Cambridge University Press

Access to resources Recommend Favorite

De novo KCNT1 mutations in early‐onset epileptic encephalopathy

By  

EPILEPSIA, Vol. 56, Iss. 9, 2015-09 ,pp. : e121-e128

John Wiley & Sons Inc

Access to resources Recommend Favorite