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. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175

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Copyright © 2023 Bloch-Zupan, Rey, Jimenez-Armijo, Kawczynski, Kharouf, O-Rare consortium, Dure-Molla, Noirrit, Hernandez, Joseph-Beaudin, Lopez, Tardieu, Thivichon-Prince, ERN Cranio Consortium, Dostalova, Macek, International Consortium, Alloussi, Qebibo, Morkmued, Pungchanchaikul, Orellana, Manière, Gérard, Bugueno and Laugel-Haushalter.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Phenotypic and genetic diagnosis in 86 individuals with isolated AI. Number of patients per main type of AI and per gene. Type I hypoplastic AI represents 39 individuals (45.3%) in blue associated with 9 different genes (AMELX, ENAM, COL17A1, LAMB3, ACP4, AMBN, COL7A1, LAMA3, LAMC2). Type II hypomature AI represents 28 individuals (32.6%) in orange associated with 6 different genes (MMP20, WDR72, AMELX, SLC24A4, KLK4). Type III hypomineralized AI represents 16 individuals (18.6%) in grey associated with 2 different genes (FAM83H, WDR72). Type IV hypoplastic-hypomature with taurodontism AI represents 3 individuals (3.5%) in yellow in 1 gene (DLX3).