Mosaicism for a variant in PTCH1 causing Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

Inger Norlyk Sheyanth; Mette Sommerlund; Hanne Vinter; Jannie Assenholt; Hans Gjørup; Lone Sunde; Malene Lundsgaard

Mosaicism for a variant in PTCH1 causing Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

Inger Norlyk Sheyanth, Mette Sommerlund, Hanne Vinter, Jannie Assenholt, Hans Gjørup, Lone Sunde, Malene Lundsgaard

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

Original language	English
Article number	EP17.017
Journal	European Journal of Human Genetics
Volume	32
Issue number	Suppl. 1
Pages (from-to)	290
Number of pages	1
ISSN	1018-4813
Publication status	Published - 8 Jan 2024
Event	56th annual European Human Genetics Conference - Glasgow, United Kingdom Duration: 10 Jun 2023 → 13 Jun 2023 https://2023.eshg.org/

Conference

Conference	56th annual European Human Genetics Conference
Country/Territory	United Kingdom
City	Glasgow
Period	10/06/2023 → 13/06/2023
Internet address	https://2023.eshg.org/

Bibliographical note

Abstract No. EP17.017

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title = "Mosaicism for a variant in PTCH1 causing Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)",

author = "Sheyanth, {Inger Norlyk} and Mette Sommerlund and Hanne Vinter and Jannie Assenholt and Hans Gj{\o}rup and Lone Sunde and Malene Lundsgaard",

note = "Abstract No. EP17.017; 56th annual European Human Genetics Conference, ESHG 2023 ; Conference date: 10-06-2023 Through 13-06-2023",

year = "2024",

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language = "English",

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TY - ABST

T1 - Mosaicism for a variant in PTCH1 causing Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

AU - Sheyanth, Inger Norlyk

AU - Sommerlund, Mette

AU - Vinter, Hanne

AU - Assenholt, Jannie

AU - Gjørup, Hans

AU - Sunde, Lone

AU - Lundsgaard, Malene

N1 - Abstract No. EP17.017

PY - 2024/1/8

Y1 - 2024/1/8

UR - https://www.nature.com/articles/s41431-023-01481-y

M3 - Conference abstract in journal

SN - 1018-4813

VL - 32

SP - 290

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl. 1

M1 - EP17.017

T2 - 56th annual European Human Genetics Conference

Y2 - 10 June 2023 through 13 June 2023

ER -

Mosaicism for a variant in PTCH1 causing Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

Conference

Bibliographical note

AUB Link

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Cite this