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10 merged results for "Netherton Syndrome"

Partial results: at least one source did not answer. Available results are shown rather than treating an upstream outage as zero matches.

Source status
  1. Dupilumab-resistant Netherton syndrome associated with a novel SPINK5 variant: c.575A>G (p.Asn192Ser).

    Zhou Q, Wang C, Jiang Q, Jiang R · 2026 · Anais brasileiros de dermatologia

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.abd.2026.501348

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  2. Atopic dermatitis reconsidered: Clinical mimics and diagnostic pearls.

    Lawrence CN, Karagounis TK, Cohen DE · 2026 · Journal of the American Academy of Dermatology

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.jaad.2025.10.171

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  3. Congenital ichthyosis is associated with increased risk of allergic disorders.

    O'Connor MB, Patel RD, Soltani H, Ren Z · 2026 · The Journal of allergy and clinical immunology

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.jaci.2026.07.016

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  4. In-depth human phenotype ontology curation boosts prioritization performance for Netherton syndrome (SPINK5-syndromic epidermal differentiation disorder).

    Cuperus E, Pasmans SGMA, Han HL, Arterbery AS · 2026 · The British journal of dermatology

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1093/bjd/ljag249

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  5. Dupilumab in Paediatric Netherton Syndrome: Two Case Reports and a Review of the Literature.

    Tu J, Kim PSW, Truong K, Fong G · 2026 · The Australasian journal of dermatology

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1111/ajd.70215

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  6. Squamous Cell Carcinoma of the External Auditory Canal in a Patient with Netherton Syndrome.

    Hayashi M, Kumai T, Ominato H, Sato R · 2026 · Case reports in dermatology

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1159/000551088

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  7. Hair Shaft Normalization and Hair Growth in SPINK5-Syndromic Epidermal Differentiation Disorder (Netherton Syndrome) while on Treatment with Dupilumab: A Novel Therapeutic Approach for Trichorrhexis Invaginata - A Case Report.

    Rendon A, Negele N, Schäkel K · 2026 · Case reports in dermatology

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1159/000552918

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  8. Netherton Syndrome in a preterm newborn presenting with erythroderma and temperature instability: a case report.

    Rossos AEM, Levy R, Ansari NS · 2026 · BMC pediatrics

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1186/s12887-026-06813-7

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  9. A mixed-methods online survey approach using retrospective self-reporting to characterise congenital ichthyoses across age groups.

    Elgie T, Davies W, Wren GH · 2026 · Orphanet journal of rare diseases

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1186/s13023-026-04358-7

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  10. The role of dupilumab in skin microbiome shifts in the Netherton genodermatosis: a case report and review of literature.

    Campione E, Simonelli A, Pistoia ES, Cosio T · 2026 · Frontiers in medicine

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3389/fmed.2026.1854027

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer