Unknown

Dataset Information

0

Severe Microcephaly and Rapid Deterioration Due to Cortical Atrophy in Early Infancy: Consider TRAPPC4 Trappopathy.

ABSTRACT:

SUBMITTER: Olmez A 

PROVIDER: S-EPMC9540913 | biostudies-literature | 2022 Jul-Aug

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Severe Microcephaly and Rapid Deterioration Due to Cortical Atrophy in Early Infancy: Consider TRAPPC4 Trappopathy.

Olmez Akgun A   Zeybek Selcan S  

Annals of Indian Academy of Neurology 20220714 4

Similar Datasets

Unknown Severe Microcephaly and Metabolic Epilepsy due to Asparagine Synthetase Deficiency.
| S-EPMC10645261 | biostudies-literature
Unknown NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
| S-EPMC8437862 | biostudies-literature
Unknown Holodiastolic Murmur following Blunt Chest Trauma: Rapid Clinical Deterioration due to Aortic Valve Perforation.
| S-EPMC12804046 | biostudies-literature
Unknown Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
| S-EPMC7586085 | biostudies-literature
Unknown <i>Pasteurella bettyae</i> infection requiring finger amputation due to rapid deterioration and tissue damage.
| S-EPMC10206417 | biostudies-literature
Unknown Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
| S-EPMC6935753 | biostudies-literature
Unknown Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
| S-EPMC7261753 | biostudies-literature
Unknown Cortical Gray Matter and Hippocampal Atrophy in Idiopathic Rapid Eye Movement Sleep Behavior Disorder.
| S-EPMC6459930 | biostudies-literature
Unknown Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.
| S-EPMC5956920 | biostudies-literature
Unknown Developmental topography of cortical thickness during infancy.
| S-EPMC6689940 | biostudies-literature