Literature DB >> 852873

The Coffin syndrome.

J P Fryns, L Vinken, H Van den Berghe.   

Abstract

Two brothers with Coffin syndrome are presented and the fifteen other cases availabe in the literature are reviewed. The molecular defect causing this clinically recognizable syndrome is unknown, and the mode of inheritance may be a sex-linked recessive, but a sex-limited autosomal dominant or autosomal dominant with variable degree of expression cannot be fully excluded at the present time.

Mesh：

Year:  1977        PMID： 852873     DOI： 10.1007/BF00446276

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  The syndrome of Coffin, Siris and Wegienka: report of a case.

Authors:  P E Sylvester; A T Rundle; B W Richards
Journal:  J Ment Defic Res       Date:  1976-03

2.  The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome.

Authors:  S A Temtamy; J D Miller; I Hussels-Maumenee
Journal:  J Pediatr       Date:  1975-05       Impact factor: 4.406

3.  Syndrome of facial abnormalities, kyphoscoliosis and severe mental retardation.

Authors:  J Jammes; S A Mirhosseini; L B Holmes
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

4.  Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's syndrome.

Authors:  P G Procopis; B Turner
Journal:  Am J Dis Child       Date:  1972-08

5.  A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

Authors:  B Lowry; J R Miller; F C Fraser
Journal:  Am J Dis Child       Date:  1971-06
  5 in total
  9 in total

1.  Treatment of drop episodes in Coffin-Lowry syndrome.

Authors:  Sean O'Riordan; M Patton; F Schon
Journal:  J Neurol       Date:  2005-07-20       Impact factor: 4.849

2.  "Cataplexy" in Coffin-Lowry syndrome.

Authors:  J P Fryns; E Smeets
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

3.  Mitochondrial DNA mutations and pathogenicity.

Authors:  P F Chinnery; D M Turnbull; N Howell; R M Andrews
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

4.  "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Authors:  Y J Crow; S M Zuberi; R McWilliam; J L Tolmie; A Hollman; K Pohl; J B Stephenson
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

Review 5.  The Coffin-Lowry syndrome.

Authors:  I D Young
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

6.  The Coffin-Lowry syndrome. A study of two new index patients and their families.

Authors:  M Haspeslagh; J P Fryns; L Beusen; F Van Dessel; L Vinken; E Moens; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1984-12       Impact factor: 3.183

7.  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

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

Authors:  K Merienne; S Jacquot; E Trivier; S Pannetier; A Rossi; C Scott; A Schinzel; C Castellan; W Kress; A Hanauer
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

Review 9.  Coffin-Lowry syndrome: clinical and molecular features.

Authors:  A Hanauer; I D Young
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318
  9 in total

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