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

por El-Kamah, Ghada Y., Mehrez, Mennat I., Taher, Mohamed B., El-Bassyouni, Hala T., Gaber, Khaled R., Amr, Khalda S.
Publicado 2023

Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease

por Sayed Amr, Khalda, El-Bassyouni, Hala T., Abdel Hady, Sawsan, Mostafa, Mostafa I., Mehrez, Mennat I., Coviello, Domenico, El-Kamah, Ghada Y.
Publicado 2021

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

por Ahmed, Hoda A., El-Kamah, Ghada Y., Rabie, Eman, Mostafa, Mostafa I., Abouzaid, Maha R., Hassib, Nehal F., Mehrez, Mennat I., Abdel-Kader, Mohamed A., Mohsen, Yasmine H., Zada, Suher K., Amr, Khalda S., Sayed, Inas S. M.
Publicado 2021