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

Atul Gupta; Chaithanya Reddy; Lokesh Saini; Jaivinder Yadav; Rakesh Kumar; Jayne Houghton; Sian Ellard; Devi Dayal

doi:10.5114/pedm.2021.107719

Streszczenie

4/2021 vol. 27

Opis przypadku

Objawy ze spektrum lissencefalii-pachygyrii u chłopca z Północnych Indii z zespołem Wolcotta-Rallisona z powodu homozygotycznej delecji eksonu 1 w genie EIF2AK3

Atul Gupta ¹

,

Chaithanya Reddy ²

,

Lokesh Saini ²

,

Jaivinder Yadav ¹

,

Rakesh Kumar ¹

,

Jayne Houghton ³

,

Sian Ellard ⁴

,

Devi Dayal ¹

Endocrinology and Diabetes Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, India
Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom
Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom

Pediatr Endocrinol Diabetes Metab 2021; 27 (4): 287–290

DOI: https://doi.org/10.5114/pedm.2021.107719

Data publikacji online: 2021/12/19

Pełna treść artykułu

AMA

Gupta A, Reddy C, Saini L, et al. Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene. Pediatric Endocrinology Diabetes and Metabolism. 2021;27(4):287-290. doi:10.5114/pedm.2021.107719.

APA

Gupta, A., Reddy, C., Saini, L., Yadav, J., Kumar, R., & Houghton, J. et al. (2021). Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene. Pediatric Endocrinology Diabetes and Metabolism, 27(4), 287-290. https://doi.org/10.5114/pedm.2021.107719

Chicago

Gupta, Atul, Chaithanya Reddy, Lokesh Saini, Jaivinder Yadav, Rakesh Kumar, Jayne Houghton, and Sian Ellard et al. 2021. "Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene". Pediatric Endocrinology Diabetes and Metabolism 27 (4): 287-290. doi:10.5114/pedm.2021.107719.

Harvard

Gupta, A., Reddy, C., Saini, L., Yadav, J., Kumar, R., Houghton, J., Ellard, S., and Dayal, D. (2021). Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene. Pediatric Endocrinology Diabetes and Metabolism, 27(4), pp.287-290. https://doi.org/10.5114/pedm.2021.107719

MLA

Gupta, Atul et al. "Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene." Pediatric Endocrinology Diabetes and Metabolism, vol. 27, no. 4, 2021, pp. 287-290. doi:10.5114/pedm.2021.107719.

Vancouver

Gupta A, Reddy C, Saini L, Yadav J, Kumar R, Houghton J et al. Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene. Pediatric Endocrinology Diabetes and Metabolism. 2021;27(4):287-290. doi:10.5114/pedm.2021.107719.

Streszczenie

Objawy ze spektrum lissencefalii-pachygyrii u chłopca z Północnych Indii z zespołem Wolcotta-Rallisona z powodu homozygotycznej delecji eksonu 1 w genie EIF2AK3

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