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

Clinical Case Reports
Renu GeorgeDenis Khnykin

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.

References

Jul 28, 2009·American Journal of Human Genetics·Joakim KlarJudith Fischer
Aug 23, 2011·Journal of the American Academy of Dermatology·Denis KhnykinFrode L Jahnsen
Jun 4, 2014·Pediatric Dermatology·Clare KielyAlan D Irvine

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Citations

Dec 16, 2020·International Journal of Dermatology·Hilal Al MandhariDenis Khnykin

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Methods Mentioned

BETA
Cesarean section
biopsy

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