Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene

BACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by neonatal diabetes mellitus (NDM), epiphyseal dysplasia, and hepatic and renal dysfunction. Although neuro-psychological features are common in patients with WRS, malformations of cortical development...

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Detalles Bibliográficos
Autores principales: Gupta, Atul, Reddy, Chaithanya, Saini, Lokesh, Yadav, Jaivinder, Kumar, Rakesh, Houghton, Jayne, Ellard, Sian, Dayal, Devi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2021
Materias:
Case report | Opis przypadku
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226343/
https://www.ncbi.nlm.nih.gov/pubmed/34928108
http://dx.doi.org/10.5114/pedm.2021.107719

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226343/
https://www.ncbi.nlm.nih.gov/pubmed/34928108
http://dx.doi.org/10.5114/pedm.2021.107719

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