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Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene‐a case report from India
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 tha...
Zapisane w:
| Wydane w: | Clin Case Rep |
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| Główni autorzy: | , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
John Wiley and Sons Inc.
2015
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4706401/ https://ncbi.nlm.nih.gov/pubmed/26783444 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.462 |
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