Harlekiniktyose med mutation i ABCA12-genet

Research output: Contribution to journal › Letter › Research › peer-review

Standard

Harlekiniktyose med mutation i ABCA12-genet. / Andersen, Lærke Heidam Juul; Kelstrup, Louise; Olsen, Tina Elisabeth; Dunø, Morten; Jørgensen, Finn Stener.

In: Ugeskrift for Laeger, Vol. 180, No. 36, V01180078, 2018.

Research output: Contribution to journal › Letter › Research › peer-review

Harvard

Andersen, LHJ, Kelstrup, L, Olsen, TE, Dunø, M & Jørgensen, FS 2018, 'Harlekiniktyose med mutation i ABCA12-genet', Ugeskrift for Laeger, vol. 180, no. 36, V01180078. <http://ugeskriftet.dk/videnskab/harlekiniktyose-med-mutation-i-abca12-genet>

APA

Andersen, L. H. J., Kelstrup, L., Olsen, T. E., Dunø, M., & Jørgensen, F. S. (2018). Harlekiniktyose med mutation i ABCA12-genet. Ugeskrift for Laeger, 180(36), [V01180078]. http://ugeskriftet.dk/videnskab/harlekiniktyose-med-mutation-i-abca12-genet

Vancouver

Andersen LHJ, Kelstrup L, Olsen TE, Dunø M, Jørgensen FS. Harlekiniktyose med mutation i ABCA12-genet. Ugeskrift for Laeger. 2018;180(36). V01180078.

Author

Andersen, Lærke Heidam Juul ; Kelstrup, Louise ; Olsen, Tina Elisabeth ; Dunø, Morten ; Jørgensen, Finn Stener. / Harlekiniktyose med mutation i ABCA12-genet. In: Ugeskrift for Laeger. 2018 ; Vol. 180, No. 36.

Bibtex

@article{4cbcfb6f3a9f48a0b4d4d39772e31d00,
title = "Harlekiniktyose med mutation i ABCA12-genet",
abstract = "Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Genetic analysis showed, that the child was homozygous for the mutation c.5121_5124del in ABCA12. The parents were related and were found heterozygous of this mutation. This clinical presentation with this new mutation has not been described in the literature before.",
author = "Andersen, {L{\ae}rke Heidam Juul} and Louise Kelstrup and Olsen, {Tina Elisabeth} and Morten Dun{\o} and J{\o}rgensen, {Finn Stener}",
year = "2018",
language = "Dansk",
volume = "180",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "36",

}

RIS

TY - JOUR

T1 - Harlekiniktyose med mutation i ABCA12-genet

AU - Andersen, Lærke Heidam Juul

AU - Kelstrup, Louise

AU - Olsen, Tina Elisabeth

AU - Dunø, Morten

AU - Jørgensen, Finn Stener

PY - 2018

Y1 - 2018

N2 - Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Genetic analysis showed, that the child was homozygous for the mutation c.5121_5124del in ABCA12. The parents were related and were found heterozygous of this mutation. This clinical presentation with this new mutation has not been described in the literature before.

AB - Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Genetic analysis showed, that the child was homozygous for the mutation c.5121_5124del in ABCA12. The parents were related and were found heterozygous of this mutation. This clinical presentation with this new mutation has not been described in the literature before.

M3 - Letter

C2 - 30187851

VL - 180

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 36

M1 - V01180078

ER -

ID: 218615613