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

TCIRG1 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 treatment, and is leth...

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Detalles Bibliográficos
Autores principales: El-Kamah, Ghada Y., Mehrez, Mennat I., Taher, Mohamed B., El-Bassyouni, Hala T., Gaber, Khaled R., Amr, Khalda S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137576/
https://www.ncbi.nlm.nih.gov/pubmed/37107657
http://dx.doi.org/10.3390/genes14040900

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137576/
https://www.ncbi.nlm.nih.gov/pubmed/37107657
http://dx.doi.org/10.3390/genes14040900

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