Ichthyosis prematurity syndrome (IPS) is reported mainly from Scandinavia where most of the cases are homozygous or compound heterozygous for the nonsense mutation c.504C>A (p.Cys168*) in exon3 indicating a common ancestor for this mutation. The occurrence of IPS in an Indian patient suggests that it is more widespread than previously reported.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706401 | PMC |
| http://dx.doi.org/10.1002/ccr3.462 | DOI Listing |
Publication Analysis
Top Keywords
ichthyosis prematurity
8
prematurity syndrome
8
syndrome caused
4
caused novel
4
novel missense
4
missense mutation
4
mutation fatp4
4
fatp4 gene-a
4
gene-a case
4
case report
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!