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New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis

✍ Scribed by Umemoto, H.; Akiyama, M.; Yanagi, T.; Sakai, K.; Aoyama, Y.; Oizumi, A.; Suga, Y.; Kitagawa, Y.; Shimizu, H.


Book ID
119293693
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
548 KB
Volume
61
Category
Article
ISSN
0923-1811

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ABCA12 mutations and autosomal recessive
✍ Masashi Akiyama πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 341 KB

Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). HI shows the most severe phenotype. CIE and LI are clinically characterized by fine, whitish sca