Orphanet Journal of Rare Diseases, 2007 Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with ...
Aldred Michael +2 more
doaj +9 more sources
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing. [PDF]
Mol Genet Genomic MedA novel pathogenic, protein‐truncating variant p.(Ser352*) was detected in a disease‐causing FAM83H gene, which was in agreement with pathogenicity, co‐segregation analysis for ADHCAI. This variant is compared to the other protein‐truncating variants in the last coding exon and confirms that a shorter protein leads to more severe ADHCAI.
Kamps R +4 more
europepmc +2 more sources
Amelogenesis Imperfecta - An account of Three Generations affected in a Family
Journal of Indian Academy of Oral Medicine and Radiology, 2004 Amelogenesis Imperfecta is a hereditary condition affecting dental enamel without any systemic manifestation. This condition can be inherited as either Autosomal or X-linked.
G Sarat +3 more
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Crucial Roles of microRNA-16-5p and microRNA-27b-3p in Ameloblast Differentiation Through Regulation of Genes Associated With Amelogenesis Imperfecta [PDF]
Frontiers in Genetics, 2022 Amelogenesis imperfecta is a congenital disorder within a heterogeneous group of conditions characterized by enamel hypoplasia. Patients suffer from early tooth loss, social embarrassment, eating difficulties, and pain due to an abnormally thin, soft ...
Akiko Suzuki +15 more
doaj +3 more sources
Orthodontic management of amelogenesis imperfecta: A case report [PDF]
Clinical Case ReportsKey Clinical Message Amelogenesis imperfecta (AI) is a rare developmental anomaly characterized by poorly developed or absent tooth enamel, which complicates orthodontic treatment due to weak enamel‐bracket bond strength.
Kanistika Jha +3 more
doaj +2 more sources
Prosthodontic rehabilitation of two siblings with hypoplastic (type 1) amelogenesis imperfecta: A case report [PDF]
HeliyonAmelogenesis imperfecta is a rare genetic disorder that interferes with normal enamel formation. Of the 4 main types of amelogenesis imperfecta, hypoplastic (type 1) is the most prevalent, characterized by a quantitative alteration in enamel. The pitting
Christina I. Wang, Naif Sinada
doaj +2 more sources
Amelogenesis imperfecta: A clinician′s challenge
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012 Defective enamel formation can be explained as defects occurring at the stages of enamel formation. Quantitative defects in matrix formation leads to hypoplastic form of amelogenesis imperfecta.
V Chamarthi, B R Varma, M Jayanthi
doaj +4 more sources
The Relationship of Amelogenesis Imperfecta and Nephrocalcinosis Syndrome [PDF]
Medicina Oral Patología Oral y Cirugia Bucal, 2009 Aim: To analyze the prevalence and associated oral findings of nephrocalcinosis in a group of patients affected with amelogenesis imperfecta (AI). The relationship between types of AI and nephrocalcinosis were also evaluated.
Kirzioglu, Zuhal +3 more
core +6 more sources
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018.
Wenyan Zhang +6 more
doaj +2 more sources
Intracanal pain remission in child with amelogenesis imperfecta. Case report [PDF]
Revista Dor, 2015 BACKGROUND AND OBJECTIVES:Amelogenesis imperfecta is characterized by enamel structural defects, which may severely affect dental structure in both dentitions.
Armiliana Soares Nascimento +4 more
doaj +2 more sources