Genetic testing of 76 families with palmoplantar keratoderma reveals a monogenic cause in more than 78 %

Stine Bjørn Gram; Klaus Brusgaard; Ulrikke Lei; Mette Sommerlund; Gabrielle Randskov Vinding; Sanne Fast; Rasmus Overgaard Bach; Anette Bygum; Lilian Bomme Ousager

Genetic testing of 76 families with palmoplantar keratoderma reveals a monogenic cause in more than 78 %

Stine Bjørn Gram, Klaus Brusgaard, Ulrikke Lei, Mette Sommerlund, Gabrielle Randskov Vinding, Sanne Fast, Rasmus Overgaard Bach, Anette Bygum, Lilian Bomme Ousager

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

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	31
Udgave nummer	Suppl. 1
ISSN	1018-4813
Status	Udgivet - 2023
Begivenhed	55th European Society of Human Genetics - Glasgow, Storbritannien Varighed: 10. jun. 2023 → 13. jun. 2023

Konference

Konference	55th European Society of Human Genetics
Land/Område	Storbritannien
By	Glasgow
Periode	10/06/2023 → 13/06/2023

Dokumenter og links

https://doi.org/10.1038/s41431-023-01346-4

Citationsformater

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title = "Genetic testing of 76 families with palmoplantar keratoderma reveals a monogenic cause in more than 78 %",

author = "Gram, {Stine Bj{\o}rn} and Klaus Brusgaard and Ulrikke Lei and Mette Sommerlund and Vinding, {Gabrielle Randskov} and Sanne Fast and {Overgaard Bach}, Rasmus and Anette Bygum and Ousager, {Lilian Bomme}",

year = "2023",

language = "English",

volume = "31",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "Suppl. 1",

note = "55th European Society of Human Genetics, ESHG ; Conference date: 10-06-2023 Through 13-06-2023",

}

TY - ABST

T1 - Genetic testing of 76 families with palmoplantar keratoderma reveals a monogenic cause in more than 78 %

AU - Gram, Stine Bjørn

AU - Brusgaard, Klaus

AU - Lei, Ulrikke

AU - Sommerlund, Mette

AU - Vinding, Gabrielle Randskov

AU - Fast, Sanne

AU - Overgaard Bach, Rasmus

AU - Bygum, Anette

AU - Ousager, Lilian Bomme

PY - 2023

Y1 - 2023

M3 - Conference abstract in journal

SN - 1018-4813

VL - 31

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl. 1

T2 - 55th European Society of Human Genetics

Y2 - 10 June 2023 through 13 June 2023

ER -