Mathilde Huckert

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Graciana Jaureguiberry, Muriel de La Dure‐Molla, David Parry et al. · Nephron Physiology · 2013 · 102 citations · Full text

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued et al. · Human Molecular Genetics · 2015 · 48 citations · Full text

Genetics, Pathology, Gene Cause Brachyolmia +16

Homozygous and Compound Heterozygous <i>MMP20</i> Mutations in Amelogenesis Imperfecta

Barbara Gasse, E. Karayigit, Éric Mathieu et al. · Journal of Dental Research · 2013 · 38 citations

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

Virginie Laugel-Haushalter, Séverine Bär, Élise Schaefer et al. · Frontiers in Genetics · 2019 · 30 citations · Full text

A Novel Mutation in the &lt;b&gt;&lt;i&gt;ROGDI&lt;/i&gt;&lt;/b&gt; Gene in a Patient with Kohlschütter-Tönz Syndrome

Mathilde Huckert, Helen Mecili, Virginie Laugel-Haushalter et al. · Molecular Syndromology · 2014 · 20 citations · Full text

Developmental Anomaly, Kohlschütter-tönz Syndrome, Novel Mutation +15