Area of research
Cell Biology · Pathology and Forensic Medicine
Research interest
Research interests include Phenotype, Epidermolysis bullosa, Medicine, Anchoring fibrils, Connective Tissue Disorder, and Hydroxylysine.
Inherited Interleukin 2–Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency
Next generation sequencing identifies double homozygous mutations in two distinct genes (<i>EXPH5</i> and <i>COL17A1</i>) in a patient with concomitant simplex and junctional epidermolysis bullosa
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy