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

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

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2021 Others A Gupta, C Reddy, L Saini, J Yadav, R Kumar… - … Diabetes and …, 2021 - termedia.pl

Full Author : ['Gupta, Atul', 'Reddy, Chaithanya', 'Saini, Lokesh', 'Yadav, Jaivinder', 'Kumar, Rakesh', 'Houghton, Jayne', 'Ellard, Sian', 'Dayal, Devi']
Journal Title : Pediatric endocrinology, diabetes, and metabolism
Chapter : Section3
Journal Year : 2021

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 wit..... Read More

Keywords : ["wolcottrallison syndrome due", "north indian boy", "lissencephalypachygyria spectrum", "homozygous deletion", "gene", "exon"]
PubMed Link : https://www.termedia.pl/Lissencephaly-pachygyria-spectrum-in-a-North-Indian-boy-with-Wolcott-Rallison-syndrome-due-to-homozygous-deletion-of-exon-1-in-the-EIF2AK3-gene,138,44674,0,1.html