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Harlekiniktyose med mutation i ABCA12-genet

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@article{b40d7d7e03db4e2b87124eec3f453bcd,
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",
month = "9",
day = "3",
language = "Dansk",
volume = "180",
pages = "V01180078",
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 - 2018/9/3

Y1 - 2018/9/3

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 - Tidsskriftartikel

VL - 180

SP - V01180078

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 36

ER -

ID: 55173741