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Literature DB >> 3069251

Coffin-Lowry syndrome: a multicenter study.

S Gilgenkrantz¹, P Mujica, P Gruet, P Tridon, F Schweitzer, A Nivelon-Chevallier, J L Nivelon, G Couillault, A David, A Verloes.

Abstract

The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male-to-male transmission, suggests an X-linked inheritance. The paper describes seven families from five European Centers.

Entities: Disease

Mesh：

Year: 1988 PMID： 3069251 DOI： 10.1111/j.1399-0004.1988.tb02870.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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Cited

9 in total

1. Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

Authors: R E Stevenson; B Häne; J F Arena; M May; L Lawrence; H A Lubs; C E Schwartz
Journal: J Med Genet Date: 1997-06 Impact factor: 6.318

2. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Authors: Maria Zeniou; Solange Pannetier; Jean-Pierre Fryns; André Hanauer
Journal: Am J Hum Genet Date: 2002-04-25 Impact factor: 11.025

Review 3. Coffin-Lowry syndrome.

Authors: Patricia Marques Pereira; Anne Schneider; Solange Pannetier; Delphine Heron; André Hanauer
Journal: Eur J Hum Genet Date: 2009-11-04 Impact factor: 4.246

4. Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

Authors: S Jacquot; K Merienne; D De Cesare; S Pannetier; J L Mandel; P Sassone-Corsi; A Hanauer
Journal: Am J Hum Genet Date: 1998-12 Impact factor: 11.025

Coffin-Lowry syndrome: a multicenter study.

1. Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

2. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Review 3. Coffin-Lowry syndrome.

4. Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

5. Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

6. Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

Review 7. Coffin-Lowry syndrome: clinical and molecular features.

Review 8. Update on 13 Syndromes Affecting Craniofacial and Dental Structures.

9. Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome.