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    Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis 
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    • Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis
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    • Centre for Cell Biology and Cutaneous Research
    • Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis
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    Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis

    Volume
    556
    Pagination
    254 - 256
    DOI
    10.1016/j.gene.2014.12.002
    Journal
    Gene
    Issue
    2
    ISSN
    0378-1119
    Metadata
    Show full item record
    Abstract
    © 2014 Elsevier B.V. Harequin ichthyosis is a severe autosomal recessive ichthyosis of congenital onset caused by biallelic mutations in the ABCA12 gene. We report two neonates of Indian origin with harlequin ichthyosis. The parents were retrospectively found to have novel mutations in ABCA12 gene after neonatal demise, which helped in providing prenatal diagnosis in subsequent pregnancies.
    Authors
    Aggarwal, S; Kar, A; Bland, P; Kelsell, D; Dalal, A
    URI
    http://qmro.qmul.ac.uk/xmlui/handle/123456789/6726
    Collections
    • Centre for Cell Biology and Cutaneous Research [361]
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