Cargando…
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity
Ectodermal dysplasia (ED) are hereditary disorders characterized by the disturbance of the ectodermal development of at least two of four ectodermal tissues: teeth, hair, nails and sweat glands. Clinical classification of ED is challenged by overlapping features, variable expressivity, and low numbe...
Autores principales: | Rabie, Eman A., Sayed, Inas S. M., Amr, Khalda, Ahmed, Hoda A., Mostafa, Mostafa I., Hassib, Nehal F., El-Sayed, Heba, Zada, Suher K., El-Kamah, Ghada |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222913/ https://www.ncbi.nlm.nih.gov/pubmed/35741818 http://dx.doi.org/10.3390/genes13061056 |
Ejemplares similares
-
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., et al.
Publicado: (2021) -
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins
por: Rabie, Eman, et al.
Publicado: (2021) -
Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients
por: Mosaad, Rehab M., et al.
Publicado: (2020) -
Defining the molecular pathology and consequent phenotypes in Egyptian HB patients
por: El-Kamah, Ghada Y., et al.
Publicado: (2021) -
Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family
por: Amr, Khalda, et al.
Publicado: (2019)