Back
#1
13.8%
Top 30%
7.4%
Top 0.6%
6.1%
#1
5.6%
Top 0.9%
5.3%
Top 1%
4.7%
Top 83%
4.7%
Top 1.0%
3.9%
Top 0.7%
3.6%
Top 4%
3.6%
Top 7%
1.8%
Top 5%
1.8%
Top 1%
1.8%
Top 6%
1.5%
Top 3%
1.5%
Top 45%
1.4%
Top 58%
1.3%
Top 21%
1.1%
Top 12%
0.9%
Top 4%
0.9%
Top 11%
0.7%
Top 6%
0.7%
Top 7%
0.7%
Top 8%
0.7%
Top 58%
0.7%
Top 11%
0.7%
Growth charts for pontocerebellar hypoplasia type 2A
2024-06-24
pediatrics
Title + abstract only
View on medRxiv
Show abstract
IntroductionPontocerebellar hypoplasia type 2A (PCH2A) is a rare, autosomal recessive disease, caused by a homozygous pathogenic variant in the gene TSEN54 (c.919G>A, p.A307S). Apart from the characteristic pontocerebellar hypoplasia in MRI, PCH2A is clinically characterized by a dyskinetic movement disorder, severe neurodevelopment delay, progressive microcephaly, and, less well recognized, failure to thrive. Additional symptoms such as seizures, gastrointestinal or respiratory problems are com...
Predicted journal destinations
1
European Journal of Human Genetics
25 training papers
2
Scientific Reports
701 training papers
3
Pediatric Research
15 training papers
4
Journal of Medical Genetics
22 training papers
5
Frontiers in Pediatrics
24 training papers
6
BMJ Paediatrics Open
20 training papers
7
PLOS ONE
1737 training papers
8
Archives of Disease in Childhood
15 training papers
9
The Journal of Pediatrics
15 training papers
10
Genetics in Medicine
57 training papers
11
NeuroImage: Clinical
77 training papers
12
Annals of Neurology
43 training papers
13
Pediatric Infectious Disease Journal
16 training papers
14
iScience
74 training papers
15
Cell Reports Medicine
49 training papers
16
Nature Communications
483 training papers
17
BMJ Open
553 training papers
18
JAMA Network Open
125 training papers
19
Journal of the American Heart Association
92 training papers
20
npj Genomic Medicine
18 training papers
21
Translational Psychiatry
94 training papers
22
Hypertension
20 training papers
23
Human Genetics and Genomics Advances
39 training papers
24
Genome Medicine
56 training papers
25
eLife
262 training papers
26
Brain
69 training papers