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Comprehensive management and oral rehabilitation of amelogenesis imperfecta: a multidisciplinary treatment approach.
BMJ Case Rep
January 2025
Department of Periodontology, King George's Medical University, Lucknow, Uttar Pradesh, India.
Amelogenesis imperfecta (AI) is a genetic disorder that affects both primary and permanent teeth. It primarily manifests as developmental disorders of enamel. The condition occurs independently of other systemic disorders and is caused by mutations in genes responsible for enamel formation, inherited in autosomal dominant, autosomal recessive or X-linked patterns.
View Article and Find Full Text PDFEnamel renal gingival syndrome in Indian scenario: A systematic review.
Med J Armed Forces India
October 2024
Commandant, Army Dental Centre (Research & Referral), New Delhi, India.
Background: Enamel renal gingival syndrome (ERS) is a genetic disorder caused by mutations in the FAM20A gene located on long arm of chromosome 17. It is characterized by presence of intra-oral features like hypoplastic type of amelogenesis imperfecta, fibromatosis of gingiva and nephrocalcinosis in addition to delayed eruption. The oral phenotype is evident in childhood, whereas the renal involvement is clinically silent at this age and requires further investigation for detection at later age.
View Article and Find Full Text PDF[Frameshift mutation in gene causes amelogenesis imperfecta].
Beijing Da Xue Xue Bao Yi Xue Ban
February 2025
Department of Cariology and Endodontology, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.
Objective: To analyze gene mutation found in a pedigree with clinical features and inheritable pattern consistent with amelogenesis imperfecta (AI) in China, and to study the relationship between its genotype and phenotype.
Methods: Clinical and radiological features were recorded for the affected individuals. Peripheral venous blood samples of the patient and family members were collected for further study, and the genomic DNA was extracted to identify the pathogenic gene.
Amelogenesis imperfecta in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Kidney Int
February 2025
Division of Nephrology, ULiège Academic Hospital, Liège, Belgium. Electronic address:
Oral Manifestations in a Child With Distal Renal Tubular Acidosis, and Refractory Rickets.
Spec Care Dentist
January 2025
Department of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, AIIMS, New Delhi, India.
Renal tubular acidosis (RTA) is a group of disorders in which there is an alteration in acid-base homeostasis because of the impairment of nephrons to excrete hydrogen ions or reabsorb bicarbonate ions, resulting in chronic metabolic acidosis. RTA is an important cause of rickets, particularly 'resistant rickets'. Dental manifestations frequently reported in patients with RTA include enamel hypoplasia and amelogenesis imperfecta, affecting permanent dentition.
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