A novel homozygous splice site variant in the CLCN7 causes osteopetrosis

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...

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Bibliographic Details
Main Authors: Zeinab Klaab, Abeer Al Tuwaijri, Muhammad Umair, Badr Aldahmash, Majid Alfadhel
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Journal of King Saud University: Science
Subjects:
CLCN7
Osteopetrosis
Osteoclast
Splice site variant
Autosomal recessive
Online Access:http://www.sciencedirect.com/science/article/pii/S1018364722005584

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