Various next generation sequencing (NGS) based strategies have been successfully used in
the recent past for tracing origins and understanding the evolution of infectious agents …

Congenital anomalies are significant causes of mortality and morbidity in infancy and
childhood. Embryogenesis requires specific signaling pathways to regulate cell proliferation …

Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …

Mutations in the LKB1 tumour suppressor threonine kinase cause the inherited Peutz-
Jeghers cancer syndrome and are also observed in some sporadic cancers. Recent work …

BACKGROUND: Germline mutations in the STK11/LKB1 gene cause Peutz–Jeghers
syndrome, an autosomal-dominantly inherited condition characterized by mucocutaneous …

Background The difficulty in establishing a timely correct diagnosis is a relevant matter of
concern for several rare diseases. Many rare-disease-affected patients suffer from …

Background and aims: Germline mutations in the LKB1 gene are known to cause Peutz-
Jeghers syndrome, which is an autosomal dominant disorder characterised by …

Primary coenzyme Q10 (CoQ 10) deficiencies are rare, clinically heterogeneous disorders
caused by mutations in several genes encoding proteins involved in CoQ 10 biosynthesis …

Purpose Juvenile polyposis syndrome (JPS) is a rare, autosomal-dominantly inherited
cancer predisposition caused in approximately 50% of cases by pathogenic germline …

Background PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare
disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K …