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Mor Pavlovsky

Tel Aviv Sourasky Medical Center

20

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213

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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.

2020 Genetics in Medicine
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Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B

2020 Clinical and Experimental Dermatology
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Variant PADI3 in Central Centrifugal Cicatricial Alopecia

2019 The New England Journal of Medicine
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Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis

2019 The Journal of Allergy and Clinical Immunology
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Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin

2019 British Journal of Dermatology
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Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors

2018 British Journal of Dermatology
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Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A

2018 Journal of Investigative Dermatology
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775 A new phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN

2018 Journal of Investigative Dermatology
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由PSENEN始祖突变引起的结合了化脓性汗腺炎与道林‐德戈斯(Dowling–Degos)病的表现型

2018 British Journal of Dermatology
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Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

2016 Journal of Investigative Dermatology
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