Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

Am J Med Genet A. 2018 Feb;176(2):499-501. doi: 10.1002/ajmg.a.38575. Epub 2017 Dec 11.

Authors

Shagun Aggarwal^{1

2}, Ashwani Tandon³, Aneek Das Bhowmik², Ashwin Dalal²

Affiliations

¹ Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
² Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
³ Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, India.

PMID: 29227033
DOI: 10.1002/ajmg.a.38575

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Age of Onset
Agenesis of Corpus Callosum / diagnostic imaging
Agenesis of Corpus Callosum / genetics*
Agenesis of Corpus Callosum / mortality
Agenesis of Corpus Callosum / physiopathology
Autophagy-Related Proteins
Autopsy
Cataract / diagnostic imaging
Cataract / genetics*
Cataract / mortality
Cataract / physiopathology
Female
Fetus
Humans
Lysosomal Membrane Proteins
Nervous System Malformations / genetics*
Nervous System Malformations / mortality
Nervous System Malformations / physiopathology
Pregnancy
Pregnancy Trimester, Second
Proteins / genetics*
Siblings
Vesicular Transport Proteins

Substances

Autophagy-Related Proteins
EPG5 protein, human
Lysosomal Membrane Proteins
Proteins
Vesicular Transport Proteins

Supplementary concepts

Absent corpus callosum cataract immunodeficiency