Artificial intelligence (AI) in medicine is transforming healthcare by automating system tasks,
assisting in diagnostics, predicting patient outcomes and personalising patient care …

Clinical genetic testing may identify the appropriate diagnosis in a subset of patients with
low bone mass, multiple or unusual fractures, and severe or early-onset osteoporosis, and …

Background Skeletal dysplasia is typically diagnosed using a combination of radiographic
imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for …

Molecular diagnosis is important to provide accurate genetic counseling of skeletal
dysplasias (SD). Although next‐generation sequencing (NGS) techniques are currently the …

Purpose Few studies have systematically analyzed the structure and content of laboratory
exome sequencing reports from the same patient. Methods We merged 8 variants from …

Genetic condition is one of the major etiologies causing morbidity and mortality in infants
and children. More and more etiologies can be solved using next-generation sequencing …

Background Spondyloepimetaphyseal dysplasias (SEMD) are a large group of skeletal
disorders represented by abnormalities of vertebrae in addition to epiphyseal and …

Thoracic insufficiency syndromes are a genetically and phenotypically heterogeneous group
of disorders characterized by congenital abnormalities or progressive deformation of the …

Hypochondroplasia is a hereditary form of skeletal dysplasia characterized by very short
stature, chest with short ribs, and disproportionately legs and arms. The COL2A1 gene …

Interventions: Whole exome sequencing data of the proband revealed a homozygous
mutation of c. 388dupA in the BAAT (bile acid-CoA: amino acid N-acyltransferase) gene …