Unknown

Dataset Information

0

Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.


ABSTRACT: 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.

SUBMITTER: George R 

PROVIDER: S-EPMC4706401 | biostudies-other | 2016 Jan

REPOSITORIES: biostudies-other

Similar Datasets

| S-EPMC5114824 | biostudies-literature
| S-EPMC8525308 | biostudies-literature
| S-EPMC7318402 | biostudies-literature
| S-EPMC8192544 | biostudies-literature
| S-EPMC4785586 | biostudies-other
| S-EPMC5775800 | biostudies-literature
| S-EPMC8497038 | biostudies-literature
| S-EPMC8567516 | biostudies-literature
| S-EPMC4852411 | biostudies-literature
| S-EPMC8113616 | biostudies-literature