Juleartikel: Genetisk udredning ved syndromale patienter – d’oh!

Translated title of the contribution: Christmas article: Genetic analysis in syndromic patients – d'oh!

Katrine Marie Harries Johannesen*, Allan Bayat

*Corresponding author for this work

Research output: Contribution to journalJournal articleCommunication

Abstract

Patients come in various shapes and sizes, and even in the event of significant clinical findings such as intellectual disability and dysmorphism, consideration for the patient’s need for genetic investigations, as well as the risk of incidental finding must be considered in all cases. This case story, based on a known cartoon figure, illustrates some of the challenges clinicians face when considering genetic testing.
Translated title of the contributionChristmas article: Genetic analysis in syndromic patients – d'oh!
Original languageDanish
Article numberV80109
JournalUgeskrift for Læger
Volume184
Issue number24
Pages (from-to)2352-2353
ISSN0041-5782
Publication statusPublished - 2022

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