Case report of mild TCIRG1‐associated autosomal recessive osteopetrosis in Vietnam
Author:
Affiliation:
1. National E Hospital Hanoi Vietnam
2. VNU University of Medicine and Pharmacy Hanoi Vietnam
3. Hanoi Medical University Hanoi Vietnam
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62897
Reference9 articles.
1. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
2. Genetics of Osteopetrosis
3. Autosomal recessive osteopetrosis: mechanisms and treatments
4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
5. As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene
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