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. 2017 May 29;8:333. doi: 10.3389/fphys.2017.00333

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Copyright © 2017 Smith, Kirkham, Day, Soldani, McDerra, Poulter, Inglehearn, Mighell and Brookes.

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) or licensor 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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Pedigrees and clinical images of families 1–5. Red labels indicate the individuals for which DNA was subjected to whole exome sequencing for families 1–3 and 5. Asterisks mark individuals in family 1 whose DNA underwent SNP genotyping analysis. Dots indicate individuals that self-reported as affected with AI or were reported by other family members to be affected with AI. However these individuals were not themselves clinically assessed by a dental practitioner. Question marks indicate individuals for which details of their AI phenotype were unavailable. The genotypes of the KLK4 c.632delT variant (NM_004917.4) for each individual for which DNA was available for analysis are marked on each pedigree. Clinical images show hypomaturation AI in families 1–4. Clinical images were unavailable for family 5.