Primary adrenal insufficiency (PAI) results from an inability to produce adequate amounts of
steroid hormones from the adrenal cortex. The most common causes of PAI are autoimmune …

Background. The genomic era has led to enormous progress in clinical care and a multi-
disciplinary team (MDT) approach is imperative for integration of genomics into epilepsy …

NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia
congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase …

Female carriers of Duchenne muscular dystrophy (DMD) presenting with DMD
symptomology similar to males with DMD, such as skeletal muscle weakness and …

Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic
variation in KMT2D or KDM6A genes. Initially, a representative cohort of 14 Czech cases …

Abstract Objective Chromosome 16p11. 2 deletions have been recognized as a genetic
disorder with well-described postnatal phenotypes. However, the prenatal manifestations …

Background: Dystrophinopathies are X-linked muscular dystrophies characterized by
pathogenic mutations in the dystrophin gene. Symptomatic dystrophinopathy female carriers …

Background: Chromosome Xp21 deletion syndrome is a rare X-linked recessive defect that
occurs as a result of multiple gene deletions, including Glycerol kinase (GK) and its …

Pseudo-hypertriglyceridemia is an overestimation of serum triglyceride levels due to
laboratory assays that measure free glycerol concentrations instead of triglycerides directly …

The contiguous gene deletion syndromes (CGDS) are rare genomic disorders resulting from
the deletion of large segments of DNA, manifested as the concurrence of apparently …