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Connecting complex disorders through biology

Nature Genetics

Mar 1, 2012

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 ...read more

Mentioned in this Paper

CTC1 gene
HOYERAAL-HREIDARSSON Syndrome
Dyskeratosis Congenita
Multiple Congenital Anomalies
Genetic Predisposition to Disease
Cerebroretinal Microangiopathy With Calcifications AND Cysts (Disorder)
Ctc1 protein, human
Telomere Repeat Binding Proteins
Telomere
Exudative Retinopathy
Paper Details
References
  • References16
  • Citations13
12
  • References16
  • Citations13
12

Connecting complex disorders through biology

Nature Genetics

Mar 1, 2012

Sharon A Savage

PMID: 22366859

DOI: 10.1038/ng.2206

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 ...read more

Mentioned in this Paper

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

Related Papers

Paper Details
References
  • References16
  • Citations13
12
  • References16
  • Citations13
12
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