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Titel:

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).

Dokumenttyp:
Article; Journal Article
Autor(en):
Gippert, Sebastian; Wagner, Matias; Brunet, Theresa; Berruti, Riccardo; Brugger, Melanie; Schwaibold, Eva M C; Haack, Tobias B; Hoffmann, Georg F; Bettendorf, Markus; Choukair, Daniela
Abstract:
BACKGROUND: Endocrine disorders are heterogeneous and include a significant number of rare monogenic diseases. METHODS: We performed exome sequencing (ES) in 106 children recruited from a single center within the TRANSLATE‑NAMSE project. They were categorized into subgroups: proportionate short stature (PSS), disproportionate short stature (DSS), hypopituitarism (H), differences in sexual development (DSD), syndromic diseases (SD) and others. RESULTS: The overall diagnostic yield was 34.9% (n =...     »
Zeitschriftentitel:
Endocrine
Jahr:
2024
Band / Volume:
85
Heft / Issue:
1
Seitenangaben Beitrag:
444-453
Volltext / DOI:
doi:10.1007/s12020-023-03581-7
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37940764
Print-ISSN:
1355-008X
TUM Einrichtung:
183; Institut für Humangenetik (Prof. Winkelmann)
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