A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

BACKGROUND: Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis. CASE PRESENTATION: A 3-week old girl presented with a large goiter, serum TSH > 100 mIU/L...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:BMC Med Genet
Hauptverfasser: Watanabe, Y., Sharwood, E., Goodwin, B., Creech, M. K., Hassan, H. Y., Netea, M. G., Jaeger, M., Dumitrescu, A., Refetoff, S., Huynh, T., Weiss, R. E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2018
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5932782/
https://ncbi.nlm.nih.gov/pubmed/29720101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0588-7
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge