Article citationsMore>>

Gosswein, T., Kocot, A., Emmert, G., Kreuz, W., Martinez-Saguer, I., Aygoren-Pürsün, E., Rusicke, E., Bork, K., Oldenburg, J. and Müller, C.R. (2008) Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema. Gytogenetic and Genome Research, 121, 181-188. doi:10.1159/000138883

has been cited by the following article:

• TITLE: A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient

  AUTHORS: Maria Cristina Maggio, Piero Sammarco, Carmelo Fabiano, Giovanni Corsello

  KEYWORDS: Hereditary Angioedema; C1-Inhibitor Deficiency

  JOURNAL NAME: Open Journal of Pediatrics, Vol.3 No.1, March 21, 2013

  ABSTRACT: Hereditary angioedema secondary to C1-inhibitor deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.An eight-year-old girl showed periorbital painless swelling, diagnosed as ethmoiditis. A craniofacial scan did not evidence a paranasal sinus involvement, C1INH levels were undetectable, with low C4 levels: 7.6 mg/dl and C1INH: