Abstract Fibrous Dysplasia/McCune Albright syndrome (FD/MAS) represents a wide
spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The …

Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted
by clinical laboratories. To establish analytical validation best practice guidelines for NGS …

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS), the result of an early embryonic
postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway …

Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating
mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and …

McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad
clinical spectrum. Disease arises from somatic-activating GNAS mutations, leading to …

Rationale: Pulmonary arterial hypertension (PAH) is a progressive fatal disease. Variable
response and tolerability to PAH therapeutics suggests that genetic differences may …

ABSTRACT Fibrous dysplasia/McCune‐Albright syndrome (FD/MAS) is a rare mosaic bone
and endocrine disorder. Although most variants affect the GNAS R201 codon, obtaining a …

While 95% of pituitary adenomas arise sporadically without a known inheritable
predisposing mutation, in about 5% of the cases they can arise in a familial setting, either …

Background Pulmonary arterial hypertension (PAH) is a fatal disease, with approximately
10% of cases associated with genetic variants. Recent genetic studies have reported …

Precocious puberty has been classically defined as the onset of sexual secondary
characteristics in girls younger than 8 years and in boys younger than 9 years. The …