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

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

Original language	English
Journal	European Journal of Human Genetics
Volume	31
Issue number	Suppl. 1
ISSN	1018-4813
Publication status	Published - 2023
Event	55th European Society of Human Genetics - Glasgow, United Kingdom Duration: 10. Jun 2023 → 13. Jun 2023

Conference

Conference	55th European Society of Human Genetics
Country/Territory	United Kingdom
City	Glasgow
Period	10/06/2023 → 13/06/2023

Documents & Links

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

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Cite this

@article{0aa66d05e2274aedb1702ab46ed22622,

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 = "Springer",

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 -