Chung-Jansen Syndrome – a new overweight and developmental delay syndrome caused by haploinsufficiency of PHIP – a case report

Research output: Contribution to conference without publisher/journalPosterResearchpeer-review

Original languageEnglish
Publication dateJun 2023
Publication statusPublished - Jun 2023
EventEuropean Human Genetics Conference 2023 - Glasgow, Skotland, United Kingdom
Duration: 10 Jun 202313 Jun 2023
Conference number: 56

Conference

ConferenceEuropean Human Genetics Conference 2023
Number56
Country/TerritoryUnited Kingdom
CityGlasgow, Skotland
Period10/06/202313/06/2023

Bibliographical note

Published as abstract here;

Sørensen A, Bjerregaard LL, Frederiksen AL. Chung-Jansen Syndrome - a new overweight and developmental delay syndrome caused by haploinsufficiency of PHIP - a case report. Eur J Hum Genet. 2024;32 MA-E (56th Annual Conference of the European-Society-of-Human-Genetics (ESHG)):186.

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