A functional analysis of pathogenic variants in NIPAL4 in patients with congenital ichthyosis

Rosalie Stoneley, Paloma Gomez Franco, Kira Süßmuth, Vinzenz Oji, Heiko Traupe, Katja Eckl, Hans Hennies

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Journal	European Journal of Human Genetics
Publication status	Accepted/In press - 5 Apr 2023
Event	56th European Human Genetics Conference - Glasgow, United Kingdom Duration: 10 Jun 2023 → 13 Jun 2023 Conference number: 56

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@article{59792d36441247898f3d3f6998fbc3cc,

title = "A functional analysis of pathogenic variants in NIPAL4 in patients with congenital ichthyosis",

keywords = "congenital ichthyosis, pathogenic variants, NIPAL4",

author = "Rosalie Stoneley and {Gomez Franco}, Paloma and Kira S{\"u}{\ss}muth and Vinzenz Oji and Heiko Traupe and Katja Eckl and Hans Hennies",

year = "2023",

month = apr,

day = "5",

language = "English",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

note = "56th European Human Genetics Conference, ESHG 2023 ; Conference date: 10-06-2023 Through 13-06-2023",

}

TY - JOUR

T1 - A functional analysis of pathogenic variants in NIPAL4 in patients with congenital ichthyosis

AU - Stoneley, Rosalie

AU - Gomez Franco, Paloma

AU - Süßmuth, Kira

AU - Oji, Vinzenz

AU - Traupe, Heiko

AU - Eckl, Katja

AU - Hennies, Hans

N1 - Conference code: 56

PY - 2023/4/5

Y1 - 2023/4/5

KW - congenital ichthyosis

KW - pathogenic variants

KW - NIPAL4

UR - https://www.nature.com/ejhg/articles?type=abstracts-collection

M3 - Meeting Abstract

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

T2 - 56th European Human Genetics Conference

Y2 - 10 June 2023 through 13 June 2023

ER -