New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742 ‐2A > G

ConclusionWe demonstrate that the very rare splice acceptor variantEDA c.742-2A>G is associated with severe oligodontia even in females. Our study points that this variant is pathogenic. An early identification of this variant is crucial for planning adequate treatment and follow-up in time by a multidisciplinary team.

Source: Molecular Genetics & Genomic Medicine - September 5, 2023 Category: Genetics & Stem Cells Authors: Vivian Reinhold, Stina Syrj änen, Minna Kankuri‐Tammilehto Tags: CLINICAL REPORT Source Type: research