CLCN7 ‐ related neuropathic infantile osteopetrosis in siblings
Author:
Affiliation:
1. Department of Pediatrics Saiseikai Niigata Hospital Niigata Japan
2. Department of Pediatrics Niigata University Graduate School of Medical and Dental Sciences Niigata Japan
3. Department of Pediatrics Nagaoka Red Cross Hospital Nagaoka Japan
Publisher
Wiley
Subject
Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.14594
Reference5 articles.
1. Chloride Channel CICN7 Mutations in a Korean Patient with Infantile Malignant Osteopetrosis Initially Presenting with Neonatal Thrombocytopenia
2. Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis
3. A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient
4. Identification and Characterization of Mutations in the CLCN7 Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis
Cited by 2 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. A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis;Frontiers in Pediatrics;2023-04-24
2. Role of Gene Interactions in the Pathophysiology of Skeletal Dysplasias: A Case Report;2023
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