Objective Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly
heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in …

Where in genes do pathogenic mutations tend to occur and does this provide clues as to the
possible underlying mechanisms by which single nucleotide polymorphisms (SNPs) cause …

BMPs (bone morphogenetic proteins) are multipurpose (transforming growth factor) TGF‐
superfamily released cytokines. These glycoproteins, acting as disulfide‐linked homo‐or …

Background Large-scale genome sequencing projects have identified many genetic variants
for diverse diseases. A major goal of these projects is to characterize these genetic variants …

Background PRKCG encodes PKC γ, which is categorized under the classical protein
kinase C family. No studies have specifically established the relationship between PRKCG …

Background LHPP is a tumor suppressor protein associated with various malignancies like
liver, oral, pharyngeal, bladder, cervical, and gastric cancers through controlling various …

Splice-site variants in cardiac genes may predispose carriers to potentially lethal
arrhythmias. To investigate, we screened 1315 probands and first-degree relatives enrolled …

Dent disease (DD) is an X-linked renal tubulopathy characterized by low-molecular-weight
proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure …

Background Osteogenesis imperfecta (OI) is a heritable bone fragility disorder usually
caused by dominant variants in COL1A1 or COL1A2 genes. Over the last few years, 17 …

The genetic heterogeneity of Mendelian disorders results in a significant proportion of
patients that are unable to be assigned a confident molecular diagnosis after conventional …