A5092533078- Connective tissue disorders research
- Neurological and metabolic disorders
- Infectious Encephalopathies and Encephalitis
- Bone health and treatments
- Muscle Physiology and Disorders
- Epigenetics and DNA Methylation
- Congenital heart defects research
- Tuberous Sclerosis Complex Research
- Spinal Fractures and Fixation Techniques
- Alcoholism and Thiamine Deficiency
- Genetic and rare skin diseases.
Necmettin Erbakan University
2023
Introduction: Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is an exceedingly rare multisystemic disease with X-linked dominant inheritance involving meso-ectodermal tissues. FDH characterized by specific cutaneous lesions, ectodermal findings, craniofacial abnormalities, ocular malformations, and limb deformities. Congenital diaphragmatic hernia, urinary anomalies, heart lung defects, or central nervous system malformations rarely accompany it. Case Presentation: We report...
Congenital myopathies are a group of clinically and genetically diverse neuromuscular diseases that often present with stable and/or slowly progressive trunk proximal weakness. Genetic analysis can help diagnose each congenital myopathy more accurately. Although an increasing number other causative genes have been reported, ryanodine receptor 1 (RYR1)-related is the most common cause. Herein, we report clinical presentation patient myopathy-1B (multiminicore disease) was caused by c.115...
Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal belonging to a group of disorders called linkeropathies. It characterized by and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region glycosaminoglycans lead linkeropathies, which exhibit clinical phenotypic features overlap each other. SEMD-JL1 results impaired growth short stature, along increased flexibility leading...
Objective: To evaluate the clinical status of epilepsy, which is extremely widespread in tuberosclerosis patients and findings characteristics a paediatric case series. Methods: The study included diagnosed with from or genetic examination who were followed up between 2015 2022 Paediatric Neurology Genetics Clinics Necmettin Erbakan University Meram Medical Faculty Hospital. A retrospective was made patients, electroencepahalography (EEG) reports, radiological (magnetic resonance imaging...