Article

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta

2023-02-06

Abstract excerpt

<title>Abstract</title> <p>Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the <italic>RELT</italic> gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). <italic>RELT<...

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Literature Corpus work: 4aaf52a7-aea9-5f2a-b21e-d2f829e9a41d
DOI: 10.21203/rs.3.rs-2534719/v1

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