A novel homozygous SLURP1 variant in a boy with Mal de Meleda born to non-consanguineous parents

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

Originalsprog	Engelsk
Artikelnummer	E-P04.47
Tidsskrift	European Journal of Human Genetics
Vol/bind	28
Udgave nummer	Suppl. 1
Sider (fra-til)	840
Antal sider	1
ISSN	1018-4813
Status	Udgivet - 1. dec. 2020
Begivenhed	European Human Genetics Conference 2020 - Messe Berlin – CityCube, Berlin, Tyskland Varighed: 6. jun. 2020 → 9. jun. 2020 https://2020.eshg.org/

Konference	European Human Genetics Conference 2020
Lokation	Messe Berlin – CityCube
Land/Område	Tyskland
By	Berlin
Periode	06/06/2020 → 09/06/2020
Internetadresse	https://2020.eshg.org/

SDU link

@article{d392d3a8d2d1461a852d0483026e267d,

title = "A novel homozygous SLURP1 variant in a boy with Mal de Meleda born to non-consanguineous parents",

author = "Gram, {S. B.} and J. Blechingberg and K. Brusgaard and A. Bygum and Ousager, {L. B.}",

year = "2020",

month = dec,

day = "1",

language = "English",

volume = "28",

pages = "840",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer",

number = "Suppl. 1",

note = "European Human Genetics Conference 2020 ; Conference date: 06-06-2020 Through 09-06-2020",

url = "https://2020.eshg.org/",

}

TY - ABST

T1 - A novel homozygous SLURP1 variant in a boy with Mal de Meleda born to non-consanguineous parents

AU - Gram, S. B.

AU - Blechingberg, J.

AU - Brusgaard, K.

AU - Bygum, A.

AU - Ousager, L. B.

PY - 2020/12/1

Y1 - 2020/12/1

M3 - Conference abstract in journal

SN - 1018-4813

VL - 28

SP - 840

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl. 1

M1 - E-P04.47

T2 - European Human Genetics Conference 2020

Y2 - 6 June 2020 through 9 June 2020

ER -