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Titel:

Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex.

Dokumenttyp:
Article; Journal Article
Autor(en):
Klinner, Jürgen; Krüger, Marcus; Brunet, Theresa; Makowski, Christine; Riedhammer, Korbinian M; Mollweide, Andreas; Wagner, Matias; Hoefele, Julia
Abstract:
Lymphedema are characterized by interstitial edema leading to swelling of extremities. They can be divided into primary and secondary lymphedema. Developmental abnormalities of the lymphatic system are responsible for the primary form of lymphedema. The secondary form of lymphedema is caused by damage of the lymphatic system due to external factors. Lymphedema can rarely be observed in patients with tuberous sclerosis complex (TSC), which is a neurocutaneous syndrome caused by pathogenic variant...     »
Zeitschriftentitel:
Gene
Jahr:
2020
Band / Volume:
753
Volltext / DOI:
doi:10.1016/j.gene.2020.144815
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/32479982
Print-ISSN:
0378-1119
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik; Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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