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Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.
Hum Genet
November 2024
Department of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
Article Synopsis
- - Tooth agenesis (TA) is a condition where tooth development stops early on and can be classified into two types: non-syndromic (NSTA) and syndromic (STA), based on whether it affects other body systems.
- - Genetic factors are mainly responsible for TA, with many genes, especially WNT10A and EDA, linked to this condition; mutations in these genes are common in cases of NSTA and certain syndromes.
- - The review details what is currently known about the genetic basis of NSTA and STA, particularly looking at how mutations in WNT10A and EDA are connected to the number of teeth that are absent in affected individuals.
Treatment strategy for patient with non-syndromic tooth agenesis: a case report and literature review.
BMC Oral Health
July 2024
Department of Stomatology, Nanfang Hospital, Southern Medical University, 1838 N Guangzhou RD, Guangzhou, 510080, Guangdong, People's Republic of China.
Background: Non-syndromic tooth agenesis (NSTA) is a type of ectodermal dysplasia (ED) in which patients with non-syndromic oligodontia may only affect teeth. No pathological findings were found in other tissues of the ectodermal. Herein, we report a case of a NSTA patient with severe dental anxiety and poor oral health.
View Article and Find Full Text PDFOrthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis.
Head Face Med
June 2024
Department of Orthodontics, Witten/Herdecke University, Alfred-Herrhausen Str. 45, 58455, Witten, Germany.
Introduction: Amelogenesis imperfecta (AI) is a genetically determined, non-syndromic enamel dysplasia that may manifest as hypoplasia, hypomaturation, or hypocalcification and can commonly be classified into four primary groups. In this retrospective analysis, specific orofacial characteristics are described and associated with each of the AI types based on a patient cohort from Witten/Herdecke University, Germany.
Methods: Data from 19 patients (ten male and nine female, mean age 12.
Tooth agenesis related to a novel KDF1 variant: A case report and literature review.
Oral Dis
November 2024
Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Objectives: To investigate the role of Keratinocyte Differentiation Factor 1 (KDF1) in ectodermal dysplasia (ED) and nonsyndromic tooth agenesis (NSTA) and perform a literature review.
Methods: Genome sequencing was used to identify genetic variants in a Thai, NSTA proband and validated through Sanger sequencing. Pathogenicity was assessed using ACMG guidelines, MetaRNN and AlphaMissense.
Arthrogryposis multiplex congenita: dental and maxillofacial phenotype - A scoping review.
Bone
February 2024
Faculty of Medicine and Health Sciences, School of Physical and Occupational Therapy, McGill University, Canada; Shriners Hospital for Children-Canada, Montreal, QC, Canada.
Introduction: Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders associated with decreased fetal movement, with a prevalence between 1/3000 and 1/5200 live births. Typical features of AMC include multiple joint contractures present at birth, and can affect all joints of the body, from the jaw, and involving the upper limbs, lower limbs and spine. The jaws may be affected in 25 % of individuals with AMC, with limited jaw movement and mouth opening.
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