Concepedia

Hair abnormality in Netherton syndrome observed under polarized light microscopy

Daisuke Utsumi, Masahito Yasuda, Hiroo Amano, Yasushi Suga, Mariko Seishima, Kenzo Takahashi

Journal of the American Academy of Dermatology · 2020 · 16 citations · 9 references

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Concepts

References

9

A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs"

E. W. Netherton · Archives of Dermatology · 1958 · 266 citations

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Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families

Emmanuelle Bitoun, Stéphane Chavanas, Alan D. Irvine et al. · Journal of Investigative Dermatology · 2002 · 213 citations · Full text

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LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome

Emmanuelle Bitoun · Human Molecular Genetics · 2003 · 210 citations · Full text

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Serine Protease Activity and Residual LEKTI Expression Determine Phenotype in Netherton Syndrome

Jean‐Pierre Hachem, Fredrik Wågberg, Matthias Schmuth et al. · Journal of Investigative Dermatology · 2006 · 178 citations

, , +8

SPINK5 and Netherton Syndrome: Novel Mutations, Demonstration of Missing LEKTI, and Differential Expression of Transglutaminases

Michael Raghunath, Lambrini Tontsidou, Vinzenz Oji et al. · Journal of Investigative Dermatology · 2004 · 108 citations · Full text

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