Outlining the Clinical Profile of <i>TCIRG1 14 Variants</i> including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families

Outlining the Clinical Profile of <i>TCIRG1 14 Variants</i> including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families

<i>TCIRG1</i> gene mutations underlie osteopetrosis, a rare genetic disorder impacting osteoclast function with consequent brittle bones prone to fracture, in spite of being characterized by increased bone density. The disorder is known to exhibit marked genetic heterogeneity, has no tre...

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Bibliographic Details
Main Authors: Ghada Y. El-Kamah, Mennat I. Mehrez, Mohamed B. Taher, Hala T. El-Bassyouni, Khaled R. Gaber, Khalda S. Amr
Format: Article
Language:English
Published: MDPI AG 2023-04-01
Series:Genes
Subjects:
<i>TCIRG1</i> gene
malignant osteopetrosis
osteoclast
brittle bone
hypocalcification
Online Access:https://www.mdpi.com/2073-4425/14/4/900

Internet

https://www.mdpi.com/2073-4425/14/4/900

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