Mathilde Huckert
Strasbourg, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Journal: Frontiers in genetics
Published: February 07, 2019
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.
Journal: Frontiers in physiology
Published: March 10, 2017
Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Journal: Frontiers in physiology
Published: May 10, 2016
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Journal: Frontiers in physiology
Published: December 17, 2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Journal: Human molecular genetics
Published: November 15, 2014
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
Journal: Molecular syndromology
Published: May 09, 2014
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
Journal: Orphanet journal of rare diseases
Published: April 18, 2014
Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.
Journal: Journal of dental research
Published: April 30, 2013
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Journal: Nephron. Physiology
Published: February 20, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026