Journal of Genetic Syndromes & Gene Therapy
Open Access

Elena Andreucci

Publications

• Case Report
  Peters Plus Syndrome: Another Way to See a Known Syndrome
  Author(s): Elisabetta Grande, Serena Ciabattoni, Elena Andreucci, Chiara Romano, Gianluca Capecchi, Silvia Ferranti and Salvatore Grosso Elisabetta Grande, Serena Ciabattoni, Elena Andreucci, Chiara Romano, Gianluca Capecchi, Silvia Ferranti and Salvatore Grosso
  
  Peters Plus Syndrome is a rare autosomic recessive disorder, clinically characterized by abnormal formation of various structures including anterior eye chamber, genitourinary tract, skeletal system and central nervous system. PPS is due to defective B3GALTL gene encoding for a glycosyl-transferase that plays a crucial role during embryogenesis. Here we report on a 12-year old boy affected by Peters Plus syndrome who showed peculiar additional features such as absence epilepsy and recurrent bacterial infections. .. View More»
  DOI: 10.4172/2157-7412.1000320

  Abstract PDF

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