Mar 1, 2012

Connecting complex disorders through biology

Nature Genetics
Sharon A Savage

Abstract

Mutations in CTC1, which encodes a key telomere component, have been identified as the cause of Coats plus syndrome. This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome.

Mentioned in this Paper

Telomere Repeat Binding Proteins
HOYERAAL-HREIDARSSON Syndrome
Cerebroretinal Microangiopathy With Calcifications AND Cysts (Disorder)
Multiple Congenital Anomalies
Exudative Retinopathy
Telomere
Ctc1 protein, human
Genetic Predisposition to Disease
Revesz Syndrome (Disorder)
CTC1 gene

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