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Article

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

BMC medical genetics - 10 Feb 2015

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

Abstract excerpt

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, gastrointes...

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Source

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Identifiers

PMID: 25928698
DOI: 10.1186/s12881-015-0151-8
PMCID: PMC4422476

Genes

CTC1
HES7
TEK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25928698-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.PMID 25928698Read ↗

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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.Semantic proximity Read ↗

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