Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

BACKGROUND: Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestin...

Descripción completa

Detalles Bibliográficos
Autores principales: Netravathi, Manjunath, Kumari, Renu, Kapoor, Saketh, Dakle, Pushkar, Dwivedi, Manish Kumar, Roy, Sumitabho Deb, Pandey, Paritosh, Saini, Jitender, Ramakrishna, Anil, Navalli, Devaraddi, Satishchandra, Parthasarathy, Pal, Pramod Kumar, Kumar, Arun, Faruq, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422476/
https://www.ncbi.nlm.nih.gov/pubmed/25928698
http://dx.doi.org/10.1186/s12881-015-0151-8

Ejemplares similares

Ejemplares similares