Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.

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Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family.Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

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Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.

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Management of ichthyosis and r ...... d emerging gene-based therapy.

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Management of ichthyosis and r ...... d emerging gene-based therapy.

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Management of ichthyosis and r ...... d emerging gene-based therapy.

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Management of ichthyosis and r ...... d emerging gene-based therapy.

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Gabriele Richard

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Keith Choate

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Leonard Milstone

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Sherri Bale

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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia

First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10

Differential modulation of keratin expression by sulforaphane occurs via Nrf2-dependent and -independent pathways in skin epithelia.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

A model of corrective gene transfer in X-linked ichthyosis.

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55-68

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scholarly article

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10.1111/J.1529-8019.2012.01553.X

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2013-01-01T00:00:00Z

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23384021

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Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.

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P2860

P2860

Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.

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