Objective: This study aimed to perform a histological evaluation of teeth diagnosed with internal root resorption.
Materials And Methods: A descriptive study involved the examination of 50 human teeth extracted due to an unfavorable prognosis for retention in the oral cavity. Teeth were preserved in 10% buffered formalin and subsequently subjected to the decalcification process.
Raine syndrome (RNS) is a rare autosomal recessive osteosclerotic dysplasia. RNS is caused by loss-of-function disease-causative variants of the FAM20C gene that encodes a kinase that phosphorylates most of the secreted proteins found in the body fluids and extracellular matrix. The most common RNS clinical features are generalized osteosclerosis, facial dysmorphism, intracerebral calcifications and respiratory defects.
View Article and Find Full Text PDFEnamel Renal Syndrome (ERS) is a rare genetic disorder caused by biallelic mutations in Family with sequence similarity 20A () gene encoding the secretory pathway pseudokinase FAM20A. ERS is characterized by hypoplastic amelogenesis imperfecta (AI), impaired tooth eruption, intra-pulpal calcifications, gingival fibromatosis and nephrocalcinosis of various severity. Previous studies showed that the hypoplastic enamel was also hypomineralized but its chemical composition has not been extensively studied.
View Article and Find Full Text PDFThe enamel renal syndrome (ERS) is a rare disorder featured by amelogenesis , gingival fibromatosis and nephrocalcinosis. ERS is caused by bi-allelic mutations in the secretory pathway pseudokinase FAM20A. How mutations in may modify the gingival connective tissue homeostasis and cause fibromatosis is currently unknown.
View Article and Find Full Text PDFEnamel renal syndrome (ERS) is a rare recessive disorder caused by loss-of-function mutations in (family with sequence similarity 20 member A, OMIM #611062). Enamel renal syndrome is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, intrapulpal calcifications, gingival overgrowth and nephrocalcinosis. Although gingival overgrowth has consistently been associated with heterotopic calcifications the pathogenesis, structure and interactions of the mineral deposits with the surrounding connective tissue are largely unknown.
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