A5103197841- Tracheal and airway disorders
- Congenital heart defects research
- interferon and immune responses
- Genetic Neurodegenerative Diseases
- Bone Tumor Diagnosis and Treatments
- Neurological diseases and metabolism
- Cancer-related molecular mechanisms research
- Congenital Heart Disease Studies
- Muscle Physiology and Disorders
Institute of Child and Mother Health
2021
This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis MO typically involves identifying benign bone tumors known as (OCs) through imaging studies physical examinations. However, cases both OCs enchondromas (ECs) may indicate more rare condition metachondromatosis (MC), which assumed to be distinct disease. Previous cohort found heterozygous loss-of-function (LoF) variants only in...
Chromosomal pathology is one of the most common causes congenital malformations. The CATCH-22 symptom complex often associated with a microdeletion chromosome 22, upon detection which it customary to diagnose DiGeorge syndrome, known primary immunodeficiency or syndrome innate errors immunity. According our data on frequency occurrence among all chromosomal abnormalities, DiGeorge’s takes second place in Sverdlovsk region after Down’s but its diagnosis not simple due varying severity...