Next-generation sequencing (NGS) has revolutionized the field of genomics and is rapidly
transforming clinical diagnosis and precision medicine. This advanced sequencing …

The diagnosis of fibrodysplasia ossificans progressiva is missed or delayed because of its
insidious precursors, especially in uncharacteristic cases. Fibrodysplasia ossificans …

Background and objectives Congenital heart defect (CHD) is one of the most common birth
defects. The aim of this cohort study was to evaluate the prevalence of chromosomal …

Background: Prenatal diagnosis of fetal short long bones (SLBs) was reported to be
associated with skeletal dysplasias, chromosomal abnormalities, and genetic syndromes …

Background Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous
inherited diseases predominantly characterized by limb-girdle muscle weakness and …

Background Hao-fountain syndrome (HAFOUS) is a neurodevelopmental syndrome
characterized by global developmental and severe language delays, behavioral …

Osteopetrosis is a genetic condition of the skeleton characterized by increased bone density
caused by osteoclast formation and function defects. Osteopetrosis is inherited in the form of …

Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory disease
characterized by familial and acquired forms. Here, we present the case of a 26-year-old …

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive
neurometabolic disorder leading to severe combined serotonin, dopamine, norepinephrine …

Background The extremely high genetic heterogeneity of hearing loss due to diverse group
of genes encoding proteins required for development, function, and maintenance of the …