Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency

We add two novel variants to the existing mutation spectrum of ASNS gene. Loss of ASNS function should be suspected in newborns presenting with congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. Acquisition and sequencing of stored newborn blood...

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Bibliographic Details
Published in:Clin Case Rep
Main Authors: Abhyankar, Avinash, Lamendola‐Essel, Michelle, Brennan, Kelly, Giordano, Jessica L., Esteves, Cecilia, Felice, Vanessa, Wapner, Ronald, Jobanputra, Vaidehi
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2017
Subjects:
Case Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5771929/
https://ncbi.nlm.nih.gov/pubmed/29375865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1284
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