Cargando…
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
BACKGROUND: Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of...
Autores principales: | Benbouchta, Yahya, Cherkaoui Jaouad, Imane, Tazi, Habiba, Elorch, Hamza, Ouhenach, Mouna, Zrhidri, Abdelali, Sadki, Khalid, Sefiani, Abdelaziz, Lyahyai, Jaber, Berraho, Amina |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789668/ https://www.ncbi.nlm.nih.gov/pubmed/33407479 http://dx.doi.org/10.1186/s12920-020-00861-3 |
Ejemplares similares
-
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
por: Ouhenach, Mouna, et al.
Publicado: (2020) -
Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
por: Sahli, Maryem, et al.
Publicado: (2023) -
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
por: Cherkaoui Jaouad, Imane, et al.
Publicado: (2018) -
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series
por: Sahli, Maryem, et al.
Publicado: (2019) -
Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia
por: Doubaj, Yassamine, et al.
Publicado: (2021)