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...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422476/
https://ncbi.nlm.nih.gov/pubmed/25928698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0151-8
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