STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity

Ivo F Nagtzaam; Frank S van Leersum; Laurie C M Kouwenberg; Marinus J Blok; Maaike Vreeburg; Peter M Steijlen; Antoni Gostyński; Michel van Geel

doi:10.1111/bjd.21775

STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity

Ivo F Nagtzaam, Frank S van Leersum, Laurie C M Kouwenberg, Marinus J Blok, Maaike Vreeburg, Peter M Steijlen, Antoni Gostyński, Michel van Geel^*

^*Corresponding author for this work

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Original language	English
Pages (from-to)	820-822
Number of pages	3
Journal	British Journal of Dermatology
Volume	187
Issue number	5
Early online date	13 Jul 2022
DOIs	https://doi.org/10.1111/bjd.21775
Publication status	Published - Nov 2022

Keywords

DEFICIENCY

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10.1111/bjd.21775Licence: CC BY-NC-ND

Cite this

@article{60b52500f6ad4428a92e2c799d76e8d4,

title = "STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity",

keywords = "DEFICIENCY",

author = "Nagtzaam, {Ivo F} and {van Leersum}, {Frank S} and Kouwenberg, {Laurie C M} and Blok, {Marinus J} and Maaike Vreeburg and Steijlen, {Peter M} and Antoni Gosty{\'n}ski and {van Geel}, Michel",

note = "Funding Information: sources: none.We would like to thank all patients and medical specialists, and the technical support team for genetic testing, who contributed to this Dutch cohort study. This project is part of the European Reference Network – SKIN thematic group Ichthyosis and Palmoplantar Keratoderma (https://ern-skin.eu).",

year = "2022",

month = nov,

doi = "10.1111/bjd.21775",

language = "English",

volume = "187",

pages = "820--822",

journal = "British Journal of Dermatology",

issn = "0007-0963",

publisher = "Wiley",

number = "5",

}

TY - JOUR

T1 - STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity

AU - Nagtzaam, Ivo F

AU - van Leersum, Frank S

AU - Kouwenberg, Laurie C M

AU - Blok, Marinus J

AU - Vreeburg, Maaike

AU - Steijlen, Peter M

AU - Gostyński, Antoni

AU - van Geel, Michel

N1 - Funding Information: sources: none.We would like to thank all patients and medical specialists, and the technical support team for genetic testing, who contributed to this Dutch cohort study. This project is part of the European Reference Network – SKIN thematic group Ichthyosis and Palmoplantar Keratoderma (https://ern-skin.eu).

PY - 2022/11

Y1 - 2022/11

KW - DEFICIENCY

U2 - 10.1111/bjd.21775

DO - 10.1111/bjd.21775

M3 - Comment/Letter to the editor

C2 - 35822528

SN - 0007-0963

VL - 187

SP - 820

EP - 822

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 5

ER -