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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Detalles Bibliográficos
Publicado en:Clin Case Rep
Main Authors: Abhyankar, Avinash, Lamendola‐Essel, Michelle, Brennan, Kelly, Giordano, Jessica L., Esteves, Cecilia, Felice, Vanessa, Wapner, Ronald, Jobanputra, Vaidehi
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2017
Assuntos:
Case Reports
Acceso en liña: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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