Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis
Author:
Affiliation:
1. FRIGE's Institute of Human Genetics; FRIGE House; Ahmedabad India
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ijd.13923/fullpdf
Reference17 articles.
1. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms;Akiyama;J Dermatol Sci,2006
2. Ichthyosis in the New born;Craiglow;Semin Perinatol,2013
3. Harlequin ichthyosis: a case report of prolonged survival;Mithwani;BMJ Case Rep,2014
4. Harlequin fetus: a case report;Hsu;Zhonghua Yi XueZaZhi (Taipei),1989
5. Three unusual siblings with harlequin ichthyosis in an Indian family;Sarkar;J Dermatol,2000
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3. Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing;Frontiers in Pediatrics;2023-02-15
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