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

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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Bibliographic Details
Main Authors: Virginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, Corinne Stoetzel, Véronique Geoffroy, Yves Alembik, Naji Kharouf, Mathilde Huckert, Pauline Hamm, Joseph Hemmerlé, Marie-Cécile Manière, Sylvie Friant, Hélène Dollfus, Agnès Bloch-Zupan
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Genetics
Subjects:
skeletal dysplasia
amelogenesis imperfecta
NGS (next generation sequencing)
human
rare diseases
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00504/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.00504/full

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