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Public Documents
1
Harlequin Ichthyosis: a case report and literature review.
Abhigan Shrestha
and 6 more
September 28, 2022
Harlequin Ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with scaly appearance. Preterm deliveries, early marriage and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but USG in places where not available.