Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.
Clin Case Rep
; 4(1): 87-9, 2016 01.
Article
em En
| MEDLINE
| ID: mdl-26783444
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.
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MEDLINE
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En
Ano de publicação:
2016
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Article