Harlequin ichthyosis: A case report and literature review

Harlequin ichthyosis: A case report and literature review

Abstract Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diag...

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Bibliographic Details
Main Authors: Abhigan Babu Shrestha, Prince Biswas, Sajina Shrestha, Romana Riyaz, Muhammad Hassnain Nawaz, Shumneva Shrestha, Labiba Hossainy
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Clinical Case Reports
Subjects:
ABCA12 mutation
genetic disorder
harlequin ichthyosis
ichthyosis congenital
Online Access:https://doi.org/10.1002/ccr3.6709

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