Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often ex...

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Detalles Bibliográficos
Autores principales: Juriaans, Alicia F., Kerkhof, Gerthe F., Mahabier, Eva F., Sas, Theo C. J., Zwaveling-Soonawala, Nitash, Touwslager, Robbert N. H., Rotteveel, Joost, Hokken-Koelega, Anita C. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9656486/
https://www.ncbi.nlm.nih.gov/pubmed/36362517
http://dx.doi.org/10.3390/jcm11216289

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9656486/
https://www.ncbi.nlm.nih.gov/pubmed/36362517
http://dx.doi.org/10.3390/jcm11216289

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