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

Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017). Whole-exome sequencing was performed...

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Detalles Bibliográficos
Autores principales: Laugel-Haushalter, Virginie, Bär, Séverine, Schaefer, Elise, Stoetzel, Corinne, Geoffroy, Véronique, Alembik, Yves, Kharouf, Naji, Huckert, Mathilde, Hamm, Pauline, Hemmerlé, Joseph, Manière, Marie-Cécile, Friant, Sylvie, Dollfus, Hélène, Bloch-Zupan, Agnès
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6546871/
https://www.ncbi.nlm.nih.gov/pubmed/31191616
http://dx.doi.org/10.3389/fgene.2019.00504

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