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2q34 Google OMIM Orphanet PubMed Wikipedia [Ichthyosis congenita] 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] |
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Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis |
Ichthyosis Fetalis |
Ichthyosis Fetalis |
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American Journal of Human Genetics |
eMedicine |
eMedicine |
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Harlequin foetus |
Harlequin foetus |
Harlequin type ichthyosis |
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Journal of Postgraduate Medicine |
Journal of Postgraduate Medicine |
Wikipedia |
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Edited by Aldo Campana,
March 14, 2010
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