A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)-Reference-Cited by-同舟云学术

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A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

Published:2012-09-18 Issue:11 Volume:158A Page:2788-2796
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Abdel‐Salam Ghada M.H.¹,Schaffer Ashleigh E.²,Zaki Maha S.¹,Dixon‐Salazar Tracy²,Mostafa Inas S.³,Afifi Hanan H.¹,Gleeson Joseph G.²

Affiliation:

1. Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt

2. Department of Neuroscience, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, California

3. Human Genetics and Genome Research Division, Orodental Genetics Department, National Research Centre, Cairo, Egypt

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.35583

Reference23 articles.

1. Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

2. Loss of Kinase Activity in a Patient With Wolcott-Rallison Syndrome Caused By a Novel Mutation in the EIF2AK3 Gene

3. Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy

4. Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus

5. EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome

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1. IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport;Cellular and Molecular Life Sciences;2024-08-08

2. Inseparable/IER3IP1are essential for cytokinesis inDrosophilaneuroblast and human cells;2024-07-23

3. IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport;2024-01-17

4. Neonatal Hypoglycemia and Hyperglycemia;Avery's Diseases of the Newborn;2024

5. Early-onset diabetes in Africa: A mini-review of the current genetic profile;European Journal of Medical Genetics;2023-12

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