Novel LAMB3 mutations cause non‐syndromic amelogenesis imperfecta with variable expressivity
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چکیده
منابع مشابه
Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity
To the Editor : Amelogenesis imperfecta (AI) is a collective term referring to inherited malformation of tooth enamel without other non-oral symptoms. Junctional epidermolysis bullosa (JEB) is a group of recessive genetic disorders featuring skin fragility, easy blistering and AI. Carriers having only one defective allele usually have no disease phenotype; however, rarely, heterozygous conditio...
متن کاملNovel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta
Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junction...
متن کاملMutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. This phenotype was first described in 1996 by Verloes et al. as an ...
متن کاملFAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
Amelogenesis imperfecta (AI) is a collection of diverse inherited disorders featuring dental-enamel defects in the absence of significant nondental symptoms. AI phenotypes vary and are categorized as hypoplastic, hypocalcified, and hypomaturation types. Phenotypic specificity to enamel has focused research on genes encoding enamel-matrix proteins. We studied two families with autosomal-dominant...
متن کامل[Amelogenesis imperfecta].
Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta Braz Dent J 2016; 27(3): 359-362 Oral Health-Related Quality of Life Before and After Crown Therapy in Young Patients with Amelogenesis Imperfecta Health Qual Life Outcomes 2015; (13): 197 Amelogenesis Imperfecta: Rehabilitation and Brainstorming on the Treatment Outcome after the First Year Case Rep Dent (2015) Art ID 57916...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2014
ISSN: 0009-9163,1399-0004
DOI: 10.1111/cge.12340