A5036039142- Pediatric Hepatobiliary Diseases and Treatments
- Sexual Differentiation and Disorders
- Testicular diseases and treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pediatric Urology and Nephrology Studies
- Genetic and rare skin diseases.
- Liver Diseases and Immunity
- Hedgehog Signaling Pathway Studies
- Skin Diseases and Diabetes
- Connective tissue disorders research
- Biomedical Research and Pathophysiology
- Genetic and Kidney Cyst Diseases
- Hypertrophic osteoarthropathy and related conditions
- Cancer and Skin Lesions
- Pregnancy-related medical research
- Skin and Cellular Biology Research
- Neonatal Respiratory Health Research
- Urological Disorders and Treatments
Ghent University
2023-2024
Ghent University Hospital
2021-2024
Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in KRAS have been described oculoectodermal syndrome (OES), encephalocraniocutaneous lipomatosis (ECCL) and epidermal nevus (ENS). This study confirms the continuum mosaic neurocutaneous showing codon 146 an individual OES and, for first time, (isolated) nevus. The presence psiloliparus individuals indicates that this finding is not specific ECCL...
Epidermal nevus syndrome (ENS) comprises a heterogeneous group of neurocutaneous syndromes associated with the presence epidermal nevi and variable extracutaneous manifestations. Postzygotic activating HRAS pathogenic variants were previously identified in sebaceous (NS), keratinocytic (KEN), different ENS, including Schimmelpenning-Feuerstein-Mims cutaneous-skeletal-hypophosphatasia (CSHS). Skeletal involvement HRAS-related ENS ranges from localized bone dysplasia association KEN to...
Does RXFP2 disruption impair male fertility?
What is the long-term outcome of individuals born with bilateral testicular regression (BTR) in relation to its underlying etiology?