Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis-Reference-Cited by-同舟云学术

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Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis

Published:2022-01 Issue: Volume:154 Page:116229
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Even-Or Ehud,Schiesel Gali,Simanovsky Natalia,NaserEddin Adeeb,Zaidman Irina,Elpeleg Orly,Mor-Shaked Hagar,Stepensky Polina

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. Osteopetrosis;Tolar;N. Engl. J. Med.,2004

2. Autosomal recessive osteopetrosis: mechanisms and treatments;Penna;Dis. Model. Mech.,2021

3. Successful bone-marrow transplantation for infantile malignant osteopetrosis;Coccia;N. Engl. J. Med.,1980

4. How we approach malignant infantile osteopetrosis;Even-Or;Pediatr. Blood Cancer,2020

5. One disease, many genes: implications for the treatment of osteopetroses;Penna;Front. Endocrinol.,2019

Cited by 10 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. Generation of an induced pluripotent stem cell line (SYSUSCi004-A) from a patient with Infantile Malignant Osteopetrosis;Stem Cell Research;2024-04

2. Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report;The Journal of Pediatrics: Clinical Practice;2024-03

3. The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120;Bone;2023-12

4. A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis;Frontiers in Pediatrics;2023-04-24

5. Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene;Bone;2022-12

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