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Titel:

Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures.

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Ak, Muharrem; Suter, Bernhard; Akturk, Zekeriya; Harris, Holly; Bowyer, Kristina; Mignon, Laurence; Pasupuleti, Sasidhar; Glaze, Daniel G; Pehlivan, Davut
Abstract:
BACKGROUND: MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including MECP2, is a rare disorder with a nascent understanding in clinical features and severity. Studies using antisense oligonucleotides revealed a broad phenotypic rescue in transgenic mice. With human clinical trials on the horizon, there is a need to develop clinical outcome measures for MDS. METHODS: We surveyed caregivers of MDS individuals to explore the frequency and severity of MDS clinical f...     »
Zeitschriftentitel:
Mol Genet Genomic Med
Jahr:
2022
Band / Volume:
10
Heft / Issue:
8
Volltext / DOI:
doi:10.1002/mgg3.1989
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35702943
TUM Einrichtung:
Lehrstuhl für Allgemeinmedizin (Prof. Schneider) (keine SAP-Zuordnung!)
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