Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions

S. V. J. Rossel; J. M. K. Clabbers; P. M. Steijlen; P. C. van den Akker; P. I. Spuls; M. A. Middelkamp Hup; M. C. van Maarle; M. Vreeburg; M. C. Bolling; M. van Geel; A. Gostynski

doi:10.1111/jdv.19340

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions

S. V. J. Rossel, J. M. K. Clabbers, P. M. Steijlen, P. C. van den Akker, P. I. Spuls, M. A. Middelkamp Hup, M. C. van Maarle, M. Vreeburg, M. C. Bolling, M. van Geel, A. Gostynski^*

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	e1405-e1409
Number of pages	5
Journal	Journal of the European Academy of Dermatology and Venereology
Volume	37
Issue number	12
Early online date	1 Jul 2023
DOIs	https://doi.org/10.1111/jdv.19340
Publication status	Published - 1 Jul 2023

Keywords

MUTATIONS

Access to Document

10.1111/jdv.19340

Cite this

Rossel, S. V. J., Clabbers, J. M. K., Steijlen, P. M., van den Akker, P. C., Spuls, P. I., Middelkamp Hup, M. A., van Maarle, M. C., Vreeburg, M., Bolling, M. C., van Geel, M., & Gostynski, A. (2023). Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. Journal of the European Academy of Dermatology and Venereology, 37(12), e1405-e1409. https://doi.org/10.1111/jdv.19340

@article{022f1d9c915349c0888d0555d0c4b1e5,

title = "Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions",

keywords = "MUTATIONS",

author = "Rossel, {S. V. J.} and Clabbers, {J. M. K.} and Steijlen, {P. M.} and {van den Akker}, {P. C.} and Spuls, {P. I.} and {Middelkamp Hup}, {M. A.} and {van Maarle}, {M. C.} and M. Vreeburg and Bolling, {M. C.} and {van Geel}, M. and A. Gostynski",

year = "2023",

month = jul,

day = "1",

doi = "10.1111/jdv.19340",

language = "English",

volume = "37",

pages = "e1405--e1409",

journal = "Journal of the European Academy of Dermatology and Venereology",

issn = "0926-9959",

publisher = "Wiley",

number = "12",

}

Rossel, SVJ , Clabbers, JMK , Steijlen, PM, van den Akker, PC, Spuls, PI, Middelkamp Hup, MA, van Maarle, MC, Vreeburg, M, Bolling, MC, van Geel, M & Gostynski, A 2023, 'Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions', Journal of the European Academy of Dermatology and Venereology, vol. 37, no. 12, pp. e1405-e1409. https://doi.org/10.1111/jdv.19340

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. / Rossel, S. V. J.; Clabbers, J. M. K.; Steijlen, P. M. et al.
In: Journal of the European Academy of Dermatology and Venereology, Vol. 37, No. 12, 01.07.2023, p. e1405-e1409.

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

TY - JOUR

T1 - Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions

AU - Rossel, S. V. J.

AU - Clabbers, J. M. K.

AU - Steijlen, P. M.

AU - van den Akker, P. C.

AU - Spuls, P. I.

AU - Middelkamp Hup, M. A.

AU - van Maarle, M. C.

AU - Vreeburg, M.

AU - Bolling, M. C.

AU - van Geel, M.

AU - Gostynski, A.

PY - 2023/7/1

Y1 - 2023/7/1

KW - MUTATIONS

U2 - 10.1111/jdv.19340

DO - 10.1111/jdv.19340

M3 - Comment/Letter to the editor

C2 - 37458571

SN - 0926-9959

VL - 37

SP - e1405-e1409

JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

IS - 12

ER -

Rossel SVJ , Clabbers JMK , Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA et al. Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. Journal of the European Academy of Dermatology and Venereology. 2023 Jul 1;37(12):e1405-e1409. Epub 2023 Jul 1. doi: 10.1111/jdv.19340