The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family

The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family

Background: The syndromic and non-syndromic congenital missing teeth phenotype is termed tooth agenesis. Since tooth agenesis is a heterogeneous disorder hence, the patients show diverse absent teeth phenotypes. Thus identifying novel genes involved in the morphogenesis of ectodermal appendages, inc...

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Bibliographic Details
Main Authors: Sher Alam Khan, Saadullah Khan, Noor Muhammad, Zia Ur Rehman, Muhammad Adnan Khan, Abdul Nasir, Umm-e- Kalsoom, Anwar Kamal Khan, Hassan Khan, Naveed Wasif
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-01-01
Series:Frontiers in Genetics
Subjects:
tooth agenesis
non-syndromic
RFX2
missense variant
hedgehog and fibroblast growth factor signaling pathways
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.782653/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.782653/full

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