Sökning: "Alexandra Topa"

Hittade 1 avhandling innehållade orden Alexandra Topa.

1. 1. Genetic studies of craniosynostosis with focus on syndromic forms

   Författare :Alexandra Topa; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cranial; suture; genetic; diagnostic; next generation sequencing;

   Sammanfattning : Craniosynostosis (CS) represents the premature closure of skull sutures and affects ~1 in 2500 children. Untreated CS can lead to significant complications in craniofacial and psychomotor development. The only treatment available is surgical and requires access to highly specialized healthcare. LÄS MER