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Article

An Indian child with Coats plus syndrome due to mutations in STN1.

American journal of medical genetics. Part A - 1 Sept 2020

Passi Gouri Rao, Shamim Uzma, Rathore Surabhi, Joshi Aditi, Mathur Aradhana, Parveen Shaista, Sharma Pooja, Crow Yanick J, Faruq Mohammed

Abstract excerpt

The role of the CTC1-STN1-TEN1 (CST) complex in Coats plus syndrome (CP), as well as other telomeropathy-phenotypes and disorders of genome instability is well documented. We report an Indian child with a clinical diagnosis of CP who presented to us with retinal exudates, extensive cerebral calcification, developmental delay and severe anemia consequent upon chronic gastrointestinal (GI) bleeding. Whole exome...

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Identifiers

PMID: 32627942
DOI: 10.1002/ajmg.a.61737

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An Indian child with Coats plus syndrome due to mutations in STN1.PMID 32627942Read ↗

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