Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome

The frequency of pathogenic large chromosome rearrangements detected in patients with different Mendelian diseases is truly diverse and can be remarkably high. Chromosome breaks could arise through different known mechanisms. Congenital PAX6-associated aniridia is a hereditary eye disorder caused by...

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Detalles Bibliográficos
Autores principales: Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Kutsev, Sergey I., Zinchenko, Rena A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397088/
https://www.ncbi.nlm.nih.gov/pubmed/32708836
http://dx.doi.org/10.3390/genes11070812

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397088/
https://www.ncbi.nlm.nih.gov/pubmed/32708836
http://dx.doi.org/10.3390/genes11070812

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