A novel homozygous splice site variant in the CLCN7 causes osteopetrosis
Objectives: Osteopetrosis is a monogenic disorder represented by disturbed osteoclast resorption or osteoclastogenesis differentiation. Clinical symptoms are intensive and brittle bones, recurrent fractures, thrombocytopenia, impaired immune function, optic nerve compression, and anemia. Several ost...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Journal of King Saud University: Science |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1018364722005584 |