Associated Papers
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.
Cuvelier V et al.
Prenatal Diagnosis, 2024
Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
Zhou Z et al.
Molecular Genetics & Genomic Medicine, 2024
Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis in Ano5Cys360Tyr knock-in mouse model.
Li H et al.
Frontiers in Endocrinology, 2023
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.
Yassaee VR et al.
Molecular Genetics & Genomic Medicine, 2022
Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia.
Li H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.
Marechal G et al.
Journal of Stomatology, Oral and Maxillofacial Surgery, 2019
Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia.
Zeng B et al.
Head & Neck, 2019
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