Associated Papers
Evaluation of Quality and Bone Microarchitecture Alterations in Osteopetrosis Patients: Assessed by HR-PQCT.
Zhou R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Generation of an induced pluripotent stem cell line (SYSUSCi004-A) from a patient with Infantile Malignant Osteopetrosis.
Fang R et al.
Stem Cell Research, 2024
Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Yang L et al.
Journal of Medical Genetics, 2020
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.
Cao W et al.
Bmj Open Ophthalmology, 2018
[Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family].
Yuan P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.
Yuan P et al.
Journal of Bone and Mineral Metabolism, 2011
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Sobacchi C et al.
Human Molecular Genetics, 2001
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