ANO5 ‐associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype-Reference-Cited by-同舟云学术

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ANO5 ‐associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype

Published:2020-09-15 Issue:1 Volume:61 Page:25-26
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Sandal Sapna¹,Arora Veronica¹,Verma Ishwar C.¹^ORCID

Affiliation:

1. Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital New Delhi India

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12391

Reference6 articles.

1. Gnathodiaphyseal Dysplasia: A Syndrome of Fibro-Osseous Lesions of Jawbones, Bone Fragility, and Long Bone Bowing

2. Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies

3. Calvarial Doughnut Lesions with Osteoporosis, Multiple Fractures, Dentinogenesis Imperfecta and Tumorous Changes in the Jaws. (Report of a Case)

4. Fragile bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones: report of two cases and review of the literature

5. Calvarial “doughnut lesions”: Clinical spectrum of the syndrome, report on a case, and review of the literature

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Ano5 Mutation Leads to Bone Dysfunction of Gnathodiaphyseal Dysplasia via Disturbing Akt Signaling;2024-09-10

2. Integration of metabolomics and transcriptomics provides insights into enhanced osteogenesis in Ano5Cys360Tyr knock-in mouse model;Frontiers in Endocrinology;2023-01-20

3. Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran;Molecular Genetics & Genomic Medicine;2022-06-27

4. Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia;Journal of Bone and Mineral Research;2021-12-22

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