Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozyg...
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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, gastrointestinal bleeding and portal hypertension. It is caused by compound...
Alternative Titles
Full title
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4422476
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4422476
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-015-0151-8
