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Ichthyosis congenita, harlequin fetus type

*Gene map locus 2q34
Harlequin fetus
Harlequin ichthyosis
[Clinical features: often lethal in the neonatal period; profound thickening of the keratin skin layer; dense armor-like scale; contraction abnormalities of the eyes, ears, and mouth]
[Inheritance: autosomal recessive]

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis
Ichthyosis Fetalis
Ichthyosis Fetalis
American Journal of Human Genetics
eMedicine
eMedicine

Compound Heterozygous Mutations Including a De Novo Missense Mutation in ABCA12 Led to a Case of Harlequin Ichthyosis with Moderate Clinical Severity
DNA-Based Prenatal Diagnosis of Harlequin Ichthyosis and Characterization of ABCA12 Mutation Consequences
Harlequin foetus
Journal of Investigative Dermatology
Journal of Investigative Dermatology
Journal of Postgraduate Medicine

Harlequin foetus
Harlequin foetus
Harlequin type ichthyosis
Journal of Postgraduate Medicine
Journal of Postgraduate Medicine
Wikipedia


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Edited by Aldo Campana, July 4, 2014